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Variant : CV73388 (GRCh38/hg38 Yp11.2-q11.221(chrY:2783624-13011793)x2) Homo sapiens

Symbol: CV73388
Name: GRCh38/hg38 Yp11.2-q11.221(chrY:2783624-13011793)x2
Condition: See cases [RCV000052582]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: AMELY   DDX3Y   FAM197Y1   FAM197Y2   FAM197Y3   FAM197Y4   FAM197Y5   FAM197Y6   FAM197Y7   FAM197Y8   FAM197Y9   LINC00278   LINC00279   LINC00280   MIR9985   PCDH11Y   RPS4Y1   SRY   TBL1Y   TGIF2LY   TSPY1   TSPY10   TSPY2   TSPY3   TSPY4   TSPY8   TTTY1   TTTY11   TTTY12   TTTY13B   TTTY15   TTTY16   TTTY18   TTTY19   TTTY1B   TTTY2   TTTY20   TTTY21   TTTY21B   TTTY22   TTTY23   TTTY23B   TTTY2B   TTTY7   TTTY7B   TTTY8   TTTY8B   USP9Y   ZFY   ZFY-AS1  
Variant Type: copy number gain (SO:0001742)
Evidence: clinical testing
HGVS Name(s): NC_000024.10:g.(?_2783624)_(13011793_?)dup
Human AssemblyChrPosition (strand)Source
GRCh38Y2,783,624 - 13,011,793CLINVAR
GRCh37Y2,651,665 - 15,123,706CLINVAR
Build 36Y2,711,665 - 13,633,100CLINVAR
Cytogenetic MapYYp11.2-q11.221CLINVAR
Prevalence: mental retardation is caused by aberrant copy numbers of subtelomeric regions in 3-8% of all cases.

References - uncurated

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 8619558
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-05-12
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.