ClinVar

GRCh38/hg38 Yp11.32-q11.221(chrY:10679-13139461)x0

Genes:

• AKAP17A:A-kinase anchoring protein 17A [Gene - OMIM - OMIM - HGNC]
• ASMTL-AS1:ASMTL antisense RNA 1 [Gene - HGNC]
• LOC106128902:AZFa HERV15yq1 recombination region [Gene]
• LOC108004538:AZFa HERV15yq2 recombination region [Gene]
• CD99:CD99 molecule (Xg blood group) [Gene - OMIM - OMIM - HGNC]
• CNE-2:CNE-2 enhancer upstream of SHOX [Gene]
• CNE-3:CNE-3 enhancer upstream of SHOX [Gene]
• CNE-5:CNE-5 enhancer upstream of SHOX [Gene]
• CNE4:CNE4 enhancer downstream of SHOX [Gene]
• CNE5:CNE5 enhancer downstream of SHOX [Gene]
• CNE6:CNE6 enhancer downstream of SHOX [Gene]
• CNE7:CNE7 enhancer downstream of SHOX [Gene]
• CNE8:CNE8 enhancer downstream of SHOX [Gene]
• CNE9:CNE9 enhancer downstream of SHOX [Gene]
• DDX3Y:DEAD-box helicase 3 Y-linked [Gene - OMIM - HGNC]
• GTPBP6:GTP binding protein 6 (putative) [Gene - OMIM - HGNC]
• LOC106144609:IR4 Yp recombination region [Gene]
• LOC126057106:MED14-independent group 3 enhancer GRCh37_chrY:6975278-6976477 [Gene]
• P2RY8:P2Y receptor family member 8 [Gene - OMIM - HGNC]
• LOC126057105:P300/CBP strongly-dependent group 1 enhancer GRCh37_chrY:6931456-6932655 [Gene]
• LOC108251802:SHOX downstream enhancer, distal recombination region [Gene]
• LOC108251803:SHOX downstream enhancer, proximal recombination region [Gene]
• SHOX:SHOX homeobox [Gene - OMIM - OMIM - HGNC]
• LOC108178989:SRY promoter region [Gene]
• TGIF2LY:TGFB induced factor homeobox 2 like Y-linked [Gene - OMIM - HGNC]
• ZFY-AS1:ZFY antisense RNA 1 [Gene - HGNC]
• ASMTL:acetylserotonin O-methyltransferase like [Gene - OMIM - OMIM - HGNC]
• ASMT:acetylserotonin O-methyltransferase [Gene - OMIM - OMIM - HGNC]
• AMELY:amelogenin Y-linked [Gene - OMIM - HGNC]
• CSF2RA:colony stimulating factor 2 receptor subunit alpha [Gene - OMIM - OMIM - HGNC]
• CRLF2:cytokine receptor like factor 2 [Gene - OMIM - OMIM - HGNC]
• DHRSX:dehydrogenase/reductase X-linked [Gene - OMIM - HGNC]
• FAM197Y1P:family with sequence similarity 197 Y-linked member 1, pseudogene [Gene - HGNC]
• FAM197Y2:family with sequence similarity 197 Y-linked member 2 [Gene - HGNC]
• FAM197Y3:family with sequence similarity 197 Y-linked member 3 [Gene - HGNC]
• FAM197Y4:family with sequence similarity 197 Y-linked member 4 [Gene - HGNC]
• FAM197Y5:family with sequence similarity 197 Y-linked member 5 [Gene - HGNC]
• FAM197Y6:family with sequence similarity 197 Y-linked member 6 [Gene - HGNC]
• FAM197Y7:family with sequence similarity 197 Y-linked member 7 [Gene - HGNC]
• FAM197Y8:family with sequence similarity 197 Y-linked member 8 [Gene - HGNC]
• FAM197Y9:family with sequence similarity 197 Y-linked member 9 [Gene - HGNC]
• IL3RA:interleukin 3 receptor subunit alpha [Gene - OMIM - OMIM - HGNC]
• LINC00102:long intergenic non-protein coding RNA 102 [Gene - HGNC]
• LINC00106:long intergenic non-protein coding RNA 106 [Gene - HGNC]
• LINC00278:long intergenic non-protein coding RNA 278 [Gene - HGNC]
• LINC00279:long intergenic non-protein coding RNA 279 [Gene - HGNC]
• LINC00280:long intergenic non-protein coding RNA 280 [Gene - HGNC]
• LINC00685:long intergenic non-protein coding RNA 685 [Gene - HGNC]
• LOC107652445:meiotic recombination hotspot SHOX [Gene]
• MIR3690:microRNA 3690 [Gene - HGNC]
• MIR6089:microRNA 6089 [Gene - HGNC]
• MIR9985:microRNA 9985 [Gene - HGNC]
• PLCXD1:phosphatidylinositol specific phospholipase C X domain containing 1 [Gene - OMIM - HGNC]
• PPP2R3B:protein phosphatase 2 regulatory subunit B''beta [Gene - OMIM - HGNC]
• PCDH11Y:protocadherin 11 Y-linked [Gene - OMIM - HGNC]
• RPS4Y1:ribosomal protein S4 Y-linked 1 [Gene - OMIM - HGNC]
• SRY:sex determining region Y [Gene - OMIM - HGNC]
• SLC25A6:solute carrier family 25 member 6 [Gene - OMIM - OMIM - HGNC]
• TTTY11:testis expressed transcript, Y-linked 11 [Gene - HGNC]
• TTTY12:testis expressed transcript, Y-linked 12 [Gene - HGNC]
• TTTY15:testis expressed transcript, Y-linked 15 [Gene - HGNC]
• TTTY16:testis expressed transcript, Y-linked 16 [Gene - HGNC]
• TTTY18:testis expressed transcript, Y-linked 18 [Gene - HGNC]
• TTTY19:testis expressed transcript, Y-linked 19 [Gene - HGNC]
• TTTY1:testis expressed transcript, Y-linked 1 [Gene - HGNC]
• TTTY1B:testis expressed transcript, Y-linked 1B [Gene - HGNC]
• TTTY20:testis expressed transcript, Y-linked 20 [Gene - HGNC]
• TTTY21:testis expressed transcript, Y-linked 21 [Gene - HGNC]
• TTTY21B:testis expressed transcript, Y-linked 21B [Gene - HGNC]
• TTTY22:testis expressed transcript, Y-linked 22 [Gene - HGNC]
• TTTY23:testis expressed transcript, Y-linked 23 [Gene - HGNC]
• TTTY23B:testis expressed transcript, Y-linked 23B [Gene - HGNC]
• TTTY2:testis expressed transcript, Y-linked 2 [Gene - HGNC]
• TTTY2B:testis expressed transcript, Y-linked 2B [Gene - HGNC]
• TTTY7:testis expressed transcript, Y-linked 7 [Gene - HGNC]
• TTTY7B:testis expressed transcript, Y-linked 7B [Gene - HGNC]
• TTTY8:testis expressed transcript, Y-linked 8 [Gene - HGNC]
• TTTY8B:testis expressed transcript, Y-linked 8B [Gene - HGNC]
• TSPY10:testis specific protein Y-linked 10 [Gene - HGNC]
• TSPY1:testis specific protein Y-linked 1 [Gene - OMIM - HGNC]
• TSPY2:testis specific protein Y-linked 2 [Gene - HGNC]
• TSPY3:testis specific protein Y-linked 3 [Gene - HGNC]
• TSPY4:testis specific protein Y-linked 4 [Gene - HGNC]
• TSPY8:testis specific protein Y-linked 8 [Gene - HGNC]
• TSPY9:testis specific protein Y-linked 9 [Gene - HGNC]
• TTTY13B:testis-specific transcript, Y-linked 13B [Gene - HGNC]
• TBL1Y:transducin beta like 1 Y-linked [Gene - OMIM - HGNC]
• USP9Y:ubiquitin specific peptidase 9 Y-linked [Gene - OMIM - HGNC]
• ZBED1:zinc finger BED-type containing 1 [Gene - OMIM - HGNC]
• ZFY:zinc finger protein Y-linked [Gene - OMIM - HGNC]

Variant type:

copy number loss

Cytogenetic location:

Yp11.32-q11.221

Genomic location:

• ChrY: 10679 - 13139461 (on Assembly GRCh38)
• ChrY: 10679 - 15251375 (on Assembly GRCh37)
• ChrY: 679 - 13760769 (on Assembly NCBI36)

Preferred name:

GRCh38/hg38 Yp11.32-q11.221(chrY:10679-13139461)x0

HGVS:

• NC_000024.10:g.(?_10679)_(13139461_?)del
• NC_000024.8:g.(?_679)_(13760769_?)del
• NC_000024.9:g.(?_10679)_(15251375_?)del

This HGVS expression did not pass validation

Links:

dbVar: nssv706369; dbVar: nsv530477

Observations:

1