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Variant : CV41863 (GRCh38/hg38 Yp11.2-q12(chrY:2786811-56885333)x2) Homo sapiens

Symbol: CV41863
Name: GRCh38/hg38 Yp11.2-q12(chrY:2786811-56885333)x2
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050325]|Global developmental delay [RCV000050326]|Abnormality of the heart [RCV000050327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050325]|See cases [RCV000050325]
Clinical Significance: pathogenic
Last Evaluated: 01/31/2013
Review Status: classified by single submitter|classified by multiple submitters
Related Genes: AMELY   BPY2   BPY2B   BPY2C   CDY1   CDY2A   CSPG4P1Y   DAZ1   DAZ2   DAZ3   DAZ4   DDX3Y   EIF1AY   GOLGA2P2Y   HSFY1   HSFY2   KDM5D   NLGN4Y   PCDH11Y   PRKY   PRORY   PRY   PRY2   RBMY1A1   RBMY1B   RBMY1D   RBMY1E   RBMY1F   RBMY1J   RPS4Y1   RPS4Y2   SRY   TBL1Y   TGIF2LY   TMSB4Y   TSPY1   TSPY10   TSPY2   TSPY3   TSPY4   TSPY8   TTTY1   TTTY10   TTTY11   TTTY12   TTTY13   TTTY14   TTTY15   TTTY16   TTTY17A   TTTY17B   TTTY17C   TTTY18   TTTY19   TTTY1B   TTTY2   TTTY20   TTTY21   TTTY21B   TTTY22   TTTY23   TTTY23B   TTTY2B   TTTY3   TTTY3B   TTTY4   TTTY4B   TTTY4C   TTTY5   TTTY6   TTTY6B   TTTY7   TTTY7B   TTTY8   TTTY8B   TTTY9A   TTTY9B   TXLNGY   USP9Y   UTY   VCY   VCY1B   XKRY   XKRY2   ZFY  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000024.10:g.(?_2786811)_(56885333_?)dup
NC_000024.9:g.(?_2654852)_(59031480_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh38Y2,786,811 - 56,885,333CLINVAR
GRCh37Y2,654,852 - 59,031,480CLINVAR
Cytogenetic MapYYp11.2-q12CLINVAR
Trait Synonyms: multiple congenital anomalies; unexplained developmental delay/intellectual disability
Prevalence: mental retardation is caused by aberrant copy numbers of subtelomeric regions in 3-8% of all cases.




Additional Information

 
CRRD Object Information
CRRD ID: 8617591
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2015-02-03
Status: ACTIVE



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