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GRCh38/hg38 8p21.2-12(chr8:24910364-31196357)x1 AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 27, 2011
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000136120.7

Allele description [Variation Report for GRCh38/hg38 8p21.2-12(chr8:24910364-31196357)x1]

GRCh38/hg38 8p21.2-12(chr8:24910364-31196357)x1

Genes:
  • LOC130000047:ATAC-STARR-seq lymphoblastoid active region 27123 [Gene]
  • LOC130000048:ATAC-STARR-seq lymphoblastoid active region 27124 [Gene]
  • LOC130000051:ATAC-STARR-seq lymphoblastoid active region 27125 [Gene]
  • LOC130000054:ATAC-STARR-seq lymphoblastoid active region 27126 [Gene]
  • LOC130000056:ATAC-STARR-seq lymphoblastoid active region 27127 [Gene]
  • LOC130000060:ATAC-STARR-seq lymphoblastoid active region 27128 [Gene]
  • LOC130000061:ATAC-STARR-seq lymphoblastoid active region 27129 [Gene]
  • LOC130000063:ATAC-STARR-seq lymphoblastoid active region 27130 [Gene]
  • LOC130000064:ATAC-STARR-seq lymphoblastoid active region 27131 [Gene]
  • LOC130000065:ATAC-STARR-seq lymphoblastoid active region 27132 [Gene]
  • LOC130000066:ATAC-STARR-seq lymphoblastoid active region 27133 [Gene]
  • LOC130000067:ATAC-STARR-seq lymphoblastoid active region 27134 [Gene]
  • LOC130000069:ATAC-STARR-seq lymphoblastoid active region 27135 [Gene]
  • LOC130000070:ATAC-STARR-seq lymphoblastoid active region 27136 [Gene]
  • LOC130000071:ATAC-STARR-seq lymphoblastoid active region 27138 [Gene]
  • LOC130000073:ATAC-STARR-seq lymphoblastoid active region 27139 [Gene]
  • LOC130000075:ATAC-STARR-seq lymphoblastoid active region 27140 [Gene]
  • LOC130000076:ATAC-STARR-seq lymphoblastoid active region 27141 [Gene]
  • LOC130000077:ATAC-STARR-seq lymphoblastoid active region 27143 [Gene]
  • LOC130000078:ATAC-STARR-seq lymphoblastoid active region 27144 [Gene]
  • LOC130000079:ATAC-STARR-seq lymphoblastoid active region 27145 [Gene]
  • LOC130000080:ATAC-STARR-seq lymphoblastoid active region 27146 [Gene]
  • LOC130000081:ATAC-STARR-seq lymphoblastoid active region 27147 [Gene]
  • LOC130000082:ATAC-STARR-seq lymphoblastoid active region 27148 [Gene]
  • LOC130000083:ATAC-STARR-seq lymphoblastoid active region 27149 [Gene]
  • LOC130000084:ATAC-STARR-seq lymphoblastoid active region 27150 [Gene]
  • LOC130000085:ATAC-STARR-seq lymphoblastoid active region 27151 [Gene]
  • LOC130000086:ATAC-STARR-seq lymphoblastoid active region 27152 [Gene]
  • LOC130000087:ATAC-STARR-seq lymphoblastoid active region 27153 [Gene]
  • LOC130000090:ATAC-STARR-seq lymphoblastoid active region 27154 [Gene]
  • LOC130000091:ATAC-STARR-seq lymphoblastoid active region 27155 [Gene]
  • LOC130000092:ATAC-STARR-seq lymphoblastoid active region 27156 [Gene]
  • LOC130000094:ATAC-STARR-seq lymphoblastoid active region 27157 [Gene]
  • LOC130000095:ATAC-STARR-seq lymphoblastoid active region 27158 [Gene]
  • LOC130000096:ATAC-STARR-seq lymphoblastoid active region 27159 [Gene]
  • LOC130000097:ATAC-STARR-seq lymphoblastoid active region 27160 [Gene]
  • LOC130000099:ATAC-STARR-seq lymphoblastoid active region 27162 [Gene]
  • LOC130000100:ATAC-STARR-seq lymphoblastoid active region 27163 [Gene]
  • LOC130000101:ATAC-STARR-seq lymphoblastoid active region 27164 [Gene]
  • LOC130000102:ATAC-STARR-seq lymphoblastoid active region 27165 [Gene]
  • LOC130000104:ATAC-STARR-seq lymphoblastoid active region 27166 [Gene]
  • LOC130000105:ATAC-STARR-seq lymphoblastoid active region 27167 [Gene]
  • LOC130000106:ATAC-STARR-seq lymphoblastoid active region 27168 [Gene]
  • LOC130000112:ATAC-STARR-seq lymphoblastoid active region 27169 [Gene]
  • LOC130000113:ATAC-STARR-seq lymphoblastoid active region 27170 [Gene]
  • LOC130000114:ATAC-STARR-seq lymphoblastoid active region 27171 [Gene]
  • LOC130000115:ATAC-STARR-seq lymphoblastoid active region 27173 [Gene]
  • LOC130000116:ATAC-STARR-seq lymphoblastoid active region 27174 [Gene]
  • LOC130000123:ATAC-STARR-seq lymphoblastoid active region 27176 [Gene]
  • LOC130000124:ATAC-STARR-seq lymphoblastoid active region 27177 [Gene]
  • LOC130000125:ATAC-STARR-seq lymphoblastoid active region 27178 [Gene]
  • LOC130000126:ATAC-STARR-seq lymphoblastoid active region 27179 [Gene]
  • LOC130000127:ATAC-STARR-seq lymphoblastoid active region 27180 [Gene]
  • LOC130000128:ATAC-STARR-seq lymphoblastoid active region 27181 [Gene]
  • LOC130000129:ATAC-STARR-seq lymphoblastoid active region 27182 [Gene]
  • LOC130000130:ATAC-STARR-seq lymphoblastoid active region 27183 [Gene]
  • LOC130000133:ATAC-STARR-seq lymphoblastoid active region 27184 [Gene]
  • LOC130000136:ATAC-STARR-seq lymphoblastoid active region 27186 [Gene]
  • LOC130000137:ATAC-STARR-seq lymphoblastoid active region 27187 [Gene]
  • LOC130000138:ATAC-STARR-seq lymphoblastoid active region 27188 [Gene]
  • LOC130000139:ATAC-STARR-seq lymphoblastoid active region 27189 [Gene]
  • LOC130000140:ATAC-STARR-seq lymphoblastoid active region 27190 [Gene]
  • LOC130000141:ATAC-STARR-seq lymphoblastoid active region 27191 [Gene]
  • LOC130000142:ATAC-STARR-seq lymphoblastoid active region 27192 [Gene]
  • LOC130000143:ATAC-STARR-seq lymphoblastoid active region 27193 [Gene]
  • LOC130000144:ATAC-STARR-seq lymphoblastoid active region 27194 [Gene]
  • LOC130000145:ATAC-STARR-seq lymphoblastoid active region 27195 [Gene]
  • LOC130000146:ATAC-STARR-seq lymphoblastoid active region 27196 [Gene]
  • LOC130000147:ATAC-STARR-seq lymphoblastoid active region 27197 [Gene]
  • LOC130000148:ATAC-STARR-seq lymphoblastoid active region 27198 [Gene]
  • LOC130000149:ATAC-STARR-seq lymphoblastoid active region 27199 [Gene]
  • LOC130000150:ATAC-STARR-seq lymphoblastoid active region 27200 [Gene]
  • LOC130000151:ATAC-STARR-seq lymphoblastoid active region 27202 [Gene]
  • LOC130000153:ATAC-STARR-seq lymphoblastoid active region 27203 [Gene]
  • LOC130000154:ATAC-STARR-seq lymphoblastoid active region 27204 [Gene]
  • LOC130000155:ATAC-STARR-seq lymphoblastoid active region 27205 [Gene]
  • LOC130000156:ATAC-STARR-seq lymphoblastoid active region 27206 [Gene]
  • LOC130000157:ATAC-STARR-seq lymphoblastoid active region 27207 [Gene]
  • LOC130000158:ATAC-STARR-seq lymphoblastoid active region 27208 [Gene]
  • LOC130000160:ATAC-STARR-seq lymphoblastoid active region 27209 [Gene]
  • LOC130000163:ATAC-STARR-seq lymphoblastoid active region 27212 [Gene]
  • LOC130000167:ATAC-STARR-seq lymphoblastoid active region 27213 [Gene]
  • LOC130000172:ATAC-STARR-seq lymphoblastoid active region 27214 [Gene]
  • LOC130000179:ATAC-STARR-seq lymphoblastoid active region 27216 [Gene]
  • LOC130000043:ATAC-STARR-seq lymphoblastoid silent region 19031 [Gene]
  • LOC130000044:ATAC-STARR-seq lymphoblastoid silent region 19032 [Gene]
  • LOC130000045:ATAC-STARR-seq lymphoblastoid silent region 19033 [Gene]
  • LOC130000046:ATAC-STARR-seq lymphoblastoid silent region 19034 [Gene]
  • LOC130000049:ATAC-STARR-seq lymphoblastoid silent region 19035 [Gene]
  • LOC130000050:ATAC-STARR-seq lymphoblastoid silent region 19036 [Gene]
  • LOC130000052:ATAC-STARR-seq lymphoblastoid silent region 19037 [Gene]
  • LOC130000053:ATAC-STARR-seq lymphoblastoid silent region 19038 [Gene]
  • LOC130000055:ATAC-STARR-seq lymphoblastoid silent region 19039 [Gene]
  • LOC130000057:ATAC-STARR-seq lymphoblastoid silent region 19040 [Gene]
  • LOC130000058:ATAC-STARR-seq lymphoblastoid silent region 19041 [Gene]
  • LOC130000059:ATAC-STARR-seq lymphoblastoid silent region 19042 [Gene]
  • LOC130000062:ATAC-STARR-seq lymphoblastoid silent region 19045 [Gene]
  • LOC130000068:ATAC-STARR-seq lymphoblastoid silent region 19046 [Gene]
  • LOC130000072:ATAC-STARR-seq lymphoblastoid silent region 19047 [Gene]
  • LOC130000074:ATAC-STARR-seq lymphoblastoid silent region 19048 [Gene]
  • LOC130000088:ATAC-STARR-seq lymphoblastoid silent region 19049 [Gene]
  • LOC130000089:ATAC-STARR-seq lymphoblastoid silent region 19050 [Gene]
  • LOC130000093:ATAC-STARR-seq lymphoblastoid silent region 19051 [Gene]
  • LOC130000098:ATAC-STARR-seq lymphoblastoid silent region 19052 [Gene]
  • LOC130000103:ATAC-STARR-seq lymphoblastoid silent region 19053 [Gene]
  • LOC130000107:ATAC-STARR-seq lymphoblastoid silent region 19054 [Gene]
  • LOC130000108:ATAC-STARR-seq lymphoblastoid silent region 19055 [Gene]
  • LOC130000109:ATAC-STARR-seq lymphoblastoid silent region 19056 [Gene]
  • LOC130000110:ATAC-STARR-seq lymphoblastoid silent region 19057 [Gene]
  • LOC130000111:ATAC-STARR-seq lymphoblastoid silent region 19058 [Gene]
  • LOC130000117:ATAC-STARR-seq lymphoblastoid silent region 19060 [Gene]
  • LOC130000118:ATAC-STARR-seq lymphoblastoid silent region 19062 [Gene]
  • LOC130000119:ATAC-STARR-seq lymphoblastoid silent region 19063 [Gene]
  • LOC130000120:ATAC-STARR-seq lymphoblastoid silent region 19064 [Gene]
  • LOC130000121:ATAC-STARR-seq lymphoblastoid silent region 19065 [Gene]
  • LOC130000122:ATAC-STARR-seq lymphoblastoid silent region 19066 [Gene]
  • LOC130000131:ATAC-STARR-seq lymphoblastoid silent region 19068 [Gene]
  • LOC130000132:ATAC-STARR-seq lymphoblastoid silent region 19069 [Gene]
  • LOC130000134:ATAC-STARR-seq lymphoblastoid silent region 19070 [Gene]
  • LOC130000135:ATAC-STARR-seq lymphoblastoid silent region 19072 [Gene]
  • LOC130000152:ATAC-STARR-seq lymphoblastoid silent region 19073 [Gene]
  • LOC130000159:ATAC-STARR-seq lymphoblastoid silent region 19074 [Gene]
  • LOC130000161:ATAC-STARR-seq lymphoblastoid silent region 19075 [Gene]
  • LOC130000162:ATAC-STARR-seq lymphoblastoid silent region 19076 [Gene]
  • LOC130000164:ATAC-STARR-seq lymphoblastoid silent region 19077 [Gene]
  • LOC130000165:ATAC-STARR-seq lymphoblastoid silent region 19078 [Gene]
  • LOC130000166:ATAC-STARR-seq lymphoblastoid silent region 19079 [Gene]
  • LOC130000168:ATAC-STARR-seq lymphoblastoid silent region 19080 [Gene]
  • LOC130000169:ATAC-STARR-seq lymphoblastoid silent region 19082 [Gene]
  • LOC130000170:ATAC-STARR-seq lymphoblastoid silent region 19083 [Gene]
  • LOC130000171:ATAC-STARR-seq lymphoblastoid silent region 19084 [Gene]
  • LOC130000173:ATAC-STARR-seq lymphoblastoid silent region 19085 [Gene]
  • LOC130000174:ATAC-STARR-seq lymphoblastoid silent region 19086 [Gene]
  • LOC130000175:ATAC-STARR-seq lymphoblastoid silent region 19087 [Gene]
  • LOC130000176:ATAC-STARR-seq lymphoblastoid silent region 19088 [Gene]
  • LOC130000177:ATAC-STARR-seq lymphoblastoid silent region 19091 [Gene]
  • LOC130000178:ATAC-STARR-seq lymphoblastoid silent region 19093 [Gene]
  • BNIP3L:BCL2 interacting protein 3 like [Gene - OMIM - HGNC]
  • LOC126860330:BRD4-independent group 4 enhancer GRCh37_chr8:24811677-24812876 [Gene]
  • LOC126860332:BRD4-independent group 4 enhancer GRCh37_chr8:26239047-26240246 [Gene]
  • LOC126860333:BRD4-independent group 4 enhancer GRCh37_chr8:28130200-28131399 [Gene]
  • LOC126860331:CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:25336688-25337887 [Gene]
  • LOC126860337:CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:29449049-29450248 [Gene]
  • LOC116186926:CRISPRi-validated cis-regulatory element chr8.1136 [Gene]
  • LOC116186925:CRISPRi-validated cis-regulatory element chr8.973 [Gene]
  • DCTN6-DT:DCTN6 divergent transcript [Gene - HGNC]
  • EBF2:EBF transcription factor 2 [Gene - OMIM - HGNC]
  • EXTL3-AS1:EXTL3 antisense RNA 1 [Gene - HGNC]
  • FBXO16:F-box protein 16 [Gene - OMIM - HGNC]
  • LOC111465018:GATA motif-containing MPRA enhancer 260 [Gene]
  • LOC126860335:MED14-independent group 3 enhancer GRCh37_chr8:29386565-29387764 [Gene]
  • LOC126860336:MED14-independent group 3 enhancer GRCh37_chr8:29412676-29413875 [Gene]
  • LOC126860338:MED14-independent group 3 enhancer GRCh37_chr8:29525986-29527185 [Gene]
  • LOC126860339:MED14-independent group 3 enhancer GRCh37_chr8:29627558-29628757 [Gene]
  • LOC126860340:MED14-independent group 3 enhancer GRCh37_chr8:29914456-29915655 [Gene]
  • LOC126860342:MED14-independent group 3 enhancer GRCh37_chr8:31029565-31030764 [Gene]
  • LOC129389968:MPRA-validated peak6954 silencer [Gene]
  • LOC129389969:MPRA-validated peak6960 silencer [Gene]
  • LOC129389970:MPRA-validated peak6961 silencer [Gene]
  • LOC129389971:MPRA-validated peak6966 silencer [Gene]
  • LOC129389972:MPRA-validated peak6969 silencer [Gene]
  • LOC129389973:MPRA-validated peak6971 silencer [Gene]
  • LOC129389974:MPRA-validated peak6972 silencer [Gene]
  • LOC129389975:MPRA-validated peak6973 silencer [Gene]
  • LOC129389976:MPRA-validated peak6979 silencer [Gene]
  • LOC132089597:Neanderthal introgressed variant-containing enhancer experimental_103076 [Gene]
  • LOC126860334:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr8:28913988-28915187 [Gene]
  • LOC126860341:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr8:30106253-30107452 [Gene]
  • PBK:PDZ binding kinase [Gene - OMIM - HGNC]
  • PNMA2:PNMA family member 2 [Gene - OMIM - HGNC]
  • RBPMS-AS1:RBPMS antisense RNA 1 [Gene - HGNC]
  • RBPMS:RNA binding protein, mRNA processing factor [Gene - OMIM - HGNC]
  • LOC108254664:SCARA5 intron CAGE-defined high expression enhancer [Gene]
  • LOC113788273:Sharpr-MPRA regulatory region 10341 [Gene]
  • LOC113788274:Sharpr-MPRA regulatory region 10380 [Gene]
  • LOC124153133:Sharpr-MPRA regulatory region 11135 [Gene]
  • LOC124153127:Sharpr-MPRA regulatory region 1118 [Gene]
  • LOC124153130:Sharpr-MPRA regulatory region 12075 [Gene]
  • LOC124153131:Sharpr-MPRA regulatory region 1267 [Gene]
  • LOC121331296:Sharpr-MPRA regulatory region 13363 [Gene]
  • LOC124153129:Sharpr-MPRA regulatory region 13890 [Gene]
  • LOC121740713:Sharpr-MPRA regulatory region 13991 [Gene]
  • LOC124153137:Sharpr-MPRA regulatory region 14750 [Gene]
  • LOC121740714:Sharpr-MPRA regulatory region 1589 [Gene]
  • LOC124153128:Sharpr-MPRA regulatory region 188 [Gene]
  • LOC113788276:Sharpr-MPRA regulatory region 2547 [Gene]
  • LOC124153126:Sharpr-MPRA regulatory region 2993 [Gene]
  • LOC121331297:Sharpr-MPRA regulatory region 3532 [Gene]
  • LOC124153136:Sharpr-MPRA regulatory region 3682 [Gene]
  • LOC124153139:Sharpr-MPRA regulatory region 3907 [Gene]
  • LOC113788275:Sharpr-MPRA regulatory region 4987 [Gene]
  • LOC124153138:Sharpr-MPRA regulatory region 541 [Gene]
  • LOC121740712:Sharpr-MPRA regulatory region 6380 [Gene]
  • LOC124153134:Sharpr-MPRA regulatory region 8281 [Gene]
  • LOC121331295:Sharpr-MPRA regulatory region 858 [Gene]
  • LOC124153135:Sharpr-MPRA regulatory region 8795 [Gene]
  • LOC124153132:Sharpr-MPRA regulatory region 9089 [Gene]
  • LOC124153125:Sharpr-MPRA regulatory region 9467 [Gene]
  • UBXN8:UBX domain protein 8 [Gene - OMIM - HGNC]
  • LOC110121062:VISTA enhancer hs1329 [Gene]
  • LOC110121196:VISTA enhancer hs1741 [Gene]
  • LOC110121233:VISTA enhancer hs1962 [Gene]
  • WRN:WRN RecQ like helicase [Gene - OMIM - HGNC]
  • ADRA1A:adrenoceptor alpha 1A [Gene - OMIM - HGNC]
  • CDCA2:cell division cycle associated 2 [Gene - OMIM - HGNC]
  • CHRNA2:cholinergic receptor nicotinic alpha 2 subunit [Gene - OMIM - HGNC]
  • CLU:clusterin [Gene - OMIM - HGNC]
  • CCDC25:coiled-coil domain containing 25 [Gene - OMIM - HGNC]
  • DOCK5:dedicator of cytokinesis 5 [Gene - OMIM - HGNC]
  • DPYSL2:dihydropyrimidinase like 2 [Gene - OMIM - HGNC]
  • DUSP4:dual specificity phosphatase 4 [Gene - OMIM - HGNC]
  • DCTN6:dynactin subunit 6 [Gene - OMIM - HGNC]
  • ELP3:elongator acetyltransferase complex subunit 3 [Gene - OMIM - HGNC]
  • EPHX2:epoxide hydrolase 2 [Gene - OMIM - HGNC]
  • ESCO2:establishment of sister chromatid cohesion N-acetyltransferase 2 [Gene - OMIM - HGNC]
  • EXTL3:exostosin like glycosyltransferase 3 [Gene - OMIM - HGNC]
  • FZD3:frizzled class receptor 3 [Gene - OMIM - HGNC]
  • GTF2E2:general transcription factor IIE subunit 2 [Gene - OMIM - HGNC]
  • GSR:glutathione-disulfide reductase [Gene - OMIM - HGNC]
  • GNRH1:gonadotropin releasing hormone 1 [Gene - OMIM - HGNC]
  • LOC108004525:heart enhancer 24 [Gene]
  • HMBOX1:homeobox containing 1 [Gene - OMIM - HGNC]
  • INTS9:integrator complex subunit 9 [Gene - OMIM - HGNC]
  • KIF13B:kinesin family member 13B [Gene - OMIM - HGNC]
  • LEPROTL1:leptin receptor overlapping transcript like 1 [Gene - OMIM - HGNC]
  • LINC02099:long intergenic non-protein coding RNA 2099 [Gene - HGNC]
  • LINC02209:long intergenic non-protein coding RNA 2209 [Gene - HGNC]
  • LINC02948:long intergenic non-protein coding RNA 2948 [Gene - HGNC]
  • LINC00589:long intergenic non-protein coding RNA 589 [Gene - HGNC]
  • MBOAT4:membrane bound O-acyltransferase domain containing 4 [Gene - OMIM - HGNC]
  • MIR3148:microRNA 3148 [Gene - HGNC]
  • MIR3622A:microRNA 3622a [Gene - HGNC]
  • MIR3622B:microRNA 3622b [Gene - HGNC]
  • MIR4287:microRNA 4287 [Gene - HGNC]
  • MIR4288:microRNA 4288 [Gene - HGNC]
  • MIR548H4:microRNA 548h-4 [Gene - HGNC]
  • MIR6841:microRNA 6841 [Gene - HGNC]
  • MIR6842:microRNA 6842 [Gene - HGNC]
  • MIR6843:microRNA 6843 [Gene - HGNC]
  • MIR6876:microRNA 6876 [Gene - HGNC]
  • NEFL:neurofilament light chain [Gene - OMIM - HGNC]
  • NEFM:neurofilament medium chain [Gene - OMIM - HGNC]
  • NUGGC:nuclear GTPase, germinal center associated [Gene - OMIM - HGNC]
  • KCTD9:potassium channel tetramerization domain containing 9 [Gene - OMIM - HGNC]
  • PNOC:prepronociceptin [Gene - OMIM - HGNC]
  • PPP2CB:protein phosphatase 2 catalytic subunit beta [Gene - OMIM - HGNC]
  • PPP2R2A:protein phosphatase 2 regulatory subunit Balpha [Gene - OMIM - HGNC]
  • PTK2B:protein tyrosine kinase 2 beta [Gene - OMIM - HGNC]
  • PURG:purine rich element binding protein G [Gene - OMIM - HGNC]
  • SCARA3:scavenger receptor class A member 3 [Gene - OMIM - HGNC]
  • SCARA5:scavenger receptor class A member 5 [Gene - OMIM - HGNC]
  • SMIM18:small integral membrane protein 18 [Gene - HGNC]
  • STMN4:stathmin 4 [Gene - OMIM - HGNC]
  • SARAF:store-operated calcium entry associated regulatory factor [Gene - OMIM - HGNC]
  • TEX15:testis expressed 15, meiosis and synapsis associated [Gene - OMIM - HGNC]
  • TRIM35:tripartite motif containing 35 [Gene - OMIM - HGNC]
  • LOC101929470:uncharacterized LOC101929470 [Gene]
  • LOC105379331:uncharacterized LOC105379331 [Gene]
  • LOC105379342:uncharacterized LOC105379342 [Gene]
  • LOC124901868:vegetative cell wall protein gp1 [Gene]
  • ZNF395:zinc finger protein 395 [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
8p21.2-12
Genomic location:
Preferred name:
GRCh38/hg38 8p21.2-12(chr8:24910364-31196357)x1
HGVS:
  • NC_000008.11:g.(?_24910364)_(31196357_?)del
  • NC_000008.10:g.(?_24767877)_(31053873_?)del
  • NC_000008.9:g.(?_24823781)_(31173415_?)del
Links:
dbVar: nssv707118; dbVar: nsv533419
Observations:
1

Condition(s)

Name:
See cases [See the Variation display for details]
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000176169ISCA site 3

See additional submitters

no assertion criteria provided
Pathogenic
(Jan 27, 2011) 		de novoclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.

Miller DT, Adam MP, Aradhya S, Biesecker LG, Brothman AR, Carter NP, Church DM, Crolla JA, Eichler EE, Epstein CJ, Faucett WA, Feuk L, Friedman JM, Hamosh A, Jackson L, Kaminsky EB, Kok K, Krantz ID, Kuhn RM, Lee C, Ostell JM, Rosenberg C, et al.

Am J Hum Genet. 2010 May 14;86(5):749-64. doi: 10.1016/j.ajhg.2010.04.006. Review.

PubMed [citation]
PMID:
20466091
PMCID:
PMC2869000

Details of each submission

From ISCA site 3, SCV000176169.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providedDiscovery1not providednot providednot provided

Last Updated: May 7, 2024