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GRCh38/hg38 1p36.32-36.31(chr1:2906020-5336116)x1 AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jun 5, 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:
RCV000137587.7

Allele description [Variation Report for GRCh38/hg38 1p36.32-36.31(chr1:2906020-5336116)x1]

GRCh38/hg38 1p36.32-36.31(chr1:2906020-5336116)x1

Genes:
  • LOC129929190:ATAC-STARR-seq lymphoblastoid active region 57 [Gene]
  • LOC129929193:ATAC-STARR-seq lymphoblastoid active region 60 [Gene]
  • LOC129929196:ATAC-STARR-seq lymphoblastoid active region 61 [Gene]
  • LOC129929197:ATAC-STARR-seq lymphoblastoid active region 62 [Gene]
  • LOC129929198:ATAC-STARR-seq lymphoblastoid active region 63 [Gene]
  • LOC129929199:ATAC-STARR-seq lymphoblastoid active region 64 [Gene]
  • LOC129929200:ATAC-STARR-seq lymphoblastoid active region 65 [Gene]
  • LOC129929205:ATAC-STARR-seq lymphoblastoid active region 67 [Gene]
  • LOC129929211:ATAC-STARR-seq lymphoblastoid active region 69 [Gene]
  • LOC129929191:ATAC-STARR-seq lymphoblastoid silent region 119 [Gene]
  • LOC129929192:ATAC-STARR-seq lymphoblastoid silent region 120 [Gene]
  • LOC129929194:ATAC-STARR-seq lymphoblastoid silent region 121 [Gene]
  • LOC129929195:ATAC-STARR-seq lymphoblastoid silent region 122 [Gene]
  • LOC129929201:ATAC-STARR-seq lymphoblastoid silent region 123 [Gene]
  • LOC129929202:ATAC-STARR-seq lymphoblastoid silent region 124 [Gene]
  • LOC129929203:ATAC-STARR-seq lymphoblastoid silent region 125 [Gene]
  • LOC129929204:ATAC-STARR-seq lymphoblastoid silent region 126 [Gene]
  • LOC129929206:ATAC-STARR-seq lymphoblastoid silent region 127 [Gene]
  • LOC129929207:ATAC-STARR-seq lymphoblastoid silent region 128 [Gene]
  • LOC129929208:ATAC-STARR-seq lymphoblastoid silent region 130 [Gene]
  • LOC129929209:ATAC-STARR-seq lymphoblastoid silent region 131 [Gene]
  • LOC129929210:ATAC-STARR-seq lymphoblastoid silent region 132 [Gene]
  • LOC126805585:BRD4-independent group 4 enhancer GRCh37_chr1:3215870-3217069 [Gene]
  • LOC126805587:BRD4-independent group 4 enhancer GRCh37_chr1:3747165-3748364 [Gene]
  • LOC126805588:BRD4-independent group 4 enhancer GRCh37_chr1:4170302-4171501 [Gene]
  • LOC126805590:BRD4-independent group 4 enhancer GRCh37_chr1:5025208-5026407 [Gene]
  • LOC126805591:BRD4-independent group 4 enhancer GRCh37_chr1:5045612-5046811 [Gene]
  • LOC126805582:CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:2824551-2825750 [Gene]
  • LOC126805583:CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:3080396-3081595 [Gene]
  • LOC126805584:CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:3191818-3193017 [Gene]
  • LOC112577579:CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:3229262-3230461 [Gene]
  • LOC126805586:CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:3745882-3747081 [Gene]
  • DFFB:DNA fragmentation factor subunit beta [Gene - OMIM - HGNC]
  • LOC126805592:MED14-independent group 3 enhancer GRCh37_chr1:5143570-5144769 [Gene]
  • LOC108281140:MEGF6 intron CAGE-defined mid-level expression enhancer [Gene]
  • LOC128505377:MPRA functional variant 1:3691528:A:G red blood cell enhancer [Gene]
  • LOC129388424:MPRA-validated peak19 silencer [Gene]
  • LOC129388425:MPRA-validated peak22 silencer [Gene]
  • LOC132088687:Neanderthal introgressed variant-containing enhancer experimental_6521 [Gene]
  • LOC132088688:Neanderthal introgressed variant-containing enhancer experimental_6546 [Gene]
  • LOC132088689:Neanderthal introgressed variant-containing enhancer experimental_6552 [Gene]
  • LOC132088690:Neanderthal introgressed variant-containing enhancer experimental_6604 [Gene]
  • LOC132088694:Neanderthal introgressed variant-containing enhancer experimental_6702 [Gene]
  • LOC132090658:Neanderthal introgressed variant-containing enhancer experimental_6721 [Gene]
  • LOC132088704:Neanderthal introgressed variant-containing enhancer experimental_7120 [Gene]
  • LOC132088707:Neanderthal introgressed variant-containing enhancer experimental_7326 [Gene]
  • LOC132088708:Neanderthal introgressed variant-containing enhancer experimental_7436 [Gene]
  • LOC132088720:Neanderthal introgressed variant-containing enhancer experimental_8096 [Gene]
  • LOC132205951:Neanderthal introgressed variant-containing enhancers experimental_7992 and experimental_7995 [Gene]
  • LOC126805589:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:4440066-4441265 [Gene]
  • PRDM16:PR/SET domain 16 [Gene - OMIM - HGNC]
  • PRDM16-DT:PRDM16 divergent transcript [Gene - HGNC]
  • ARHGEF16:Rho guanine nucleotide exchange factor 16 [Gene - OMIM - HGNC]
  • LOC121967052:Sharpr-MPRA regulatory region 10388 [Gene]
  • LOC112577578:Sharpr-MPRA regulatory region 1148 [Gene]
  • LOC112577581:Sharpr-MPRA regulatory region 1968 [Gene]
  • LOC120851201:Sharpr-MPRA regulatory region 1987 [Gene]
  • LOC121677384:Sharpr-MPRA regulatory region 4254 [Gene]
  • TP73-AS1:TP73 antisense RNA 1 [Gene - HGNC]
  • TP73-AS2:TP73 antisense RNA 2 [Gene - HGNC]
  • TP73-AS3:TP73 antisense RNA 3 [Gene - HGNC]
  • LOC110121223:VISTA enhancer hs1912 [Gene]
  • LOC110120751:VISTA enhancer hs705 [Gene]
  • WRAP73:WD repeat containing, antisense to TP73 [Gene - OMIM - HGNC]
  • ACTRT2:actin related protein T2 [Gene - OMIM - HGNC]
  • AJAP1:adherens junctions associated protein 1 [Gene - OMIM - HGNC]
  • CEP104:centrosomal protein 104 [Gene - OMIM - HGNC]
  • C1orf174:chromosome 1 open reading frame 174 [Gene - HGNC]
  • CCDC27:coiled-coil domain containing 27 [Gene - HGNC]
  • LRRC47:leucine rich repeat containing 47 [Gene - OMIM - HGNC]
  • LINC01134:long intergenic non-protein coding RNA 1134 [Gene - HGNC]
  • LINC01345:long intergenic non-protein coding RNA 1345 [Gene - HGNC]
  • LINC01346:long intergenic non-protein coding RNA 1346 [Gene - HGNC]
  • LINC01646:long intergenic non-protein coding RNA 1646 [Gene - HGNC]
  • LINC01777:long intergenic non-protein coding RNA 1777 [Gene - HGNC]
  • LINC02780:long intergenic non-protein coding RNA 2780 [Gene - HGNC]
  • LINC02782:long intergenic non-protein coding RNA 2782 [Gene - HGNC]
  • MIR4251:microRNA 4251 [Gene - HGNC]
  • MIR551A:microRNA 551a [Gene - OMIM - HGNC]
  • MEGF6:multiple EGF like domains 6 [Gene - OMIM - HGNC]
  • SMIM1:small integral membrane protein 1 (Vel blood group) [Gene - OMIM - HGNC]
  • LOC124903827:translation initiation factor IF-2 [Gene]
  • TPRG1L:tumor protein p63 regulated 1 like [Gene - OMIM - HGNC]
  • TP73:tumor protein p73 [Gene - OMIM - HGNC]
  • LOC105378604:uncharacterized LOC105378604 [Gene]
Variant type:
copy number loss
Cytogenetic location:
1p36.32-36.31
Genomic location:
Preferred name:
GRCh38/hg38 1p36.32-36.31(chr1:2906020-5336116)x1
HGVS:
  • NC_000001.11:g.(?_2906020)_(5336116_?)del
  • NC_000001.10:g.(?_2822585)_(5396176_?)del
  • NC_000001.9:g.(?_2812445)_(5296036_?)del
Links:
dbVar: nssv1415490; dbVar: nsv817530
Observations:
1

Condition(s)

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

Recent activity

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  • Repression-Sensitization
    Repression-Sensitization
    Defense mechanisms involving approach and avoidance responses to threatening stimuli. The sensitizing process involves intellectualization in approaching or controlling the st...<br/>Year introduced: 1973(1971)
    MeSH
  • Genocide
    Genocide
    The deliberate annihilation of a national, ethnic, or religious group, in part or in whole.<br/>Year introduced: 2013
    MeSH

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000177817ISCA site 1

See additional submitters

no assertion criteria provided
Pathogenic
(Jun 5, 2011) 		unknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
humannot providedyes1not 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 1, SCV000177817.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1human1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providedDiscovery1not providednot providednot provided

Last Updated: May 7, 2024