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Variant : CV481046 (Single allele) Homo sapiens

Symbol: CV481046
Name: Single allele
Condition: Autistic disorder of childhood onset [RCV000754378]
Clinical Significance: likely pathogenic
Last Evaluated: 03/20/2018
Review Status: criteria provided, single submitter
Related Genes: AKAP17A   AMELY   ASMT   ASMTL   ASMTL-AS1   BPY2   BPY2B   BPY2C   CD99   CDY1   CDY1B   CDY2A   CDY2B   CRLF2   CSF2RA   DAZ1   DAZ2   DAZ3   DAZ4   DDX3Y   DHRSX   EIF1AY   FAM197Y2   FAM197Y3   FAM197Y4   FAM197Y5   FAM197Y6   FAM197Y7   FAM197Y8   FAM197Y9   FAM224A   FAM224B   FAM41AY1   FAM41AY2   GTPBP6   HSFY1   HSFY2   IL3RA   IL9R   KDM5D   LINC00102   LINC00106   LINC00278   LINC00279   LINC00280   LINC00685   MIR12120   MIR3690   MIR6089   MIR9985   NLGN4Y   NLGN4Y-AS1   P2RY8   PCDH11Y   PLCXD1   PPP2R3B   PRORY   PRY   PRY2   RBMY1A1   RBMY1B   RBMY1D   RBMY1E   RBMY1F   RBMY1J   RPS4Y1   RPS4Y2   SHOX   SLC25A6   SPRY3   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   USP9Y   UTY   VAMP7   VCY   VCY1B   WASIR1   XKRY   XKRY2   ZBED1   ZFY   ZFY-AS1  
Variant Type: duplication (SO:1000035)
Source: CLINVAR
Evidence: research
Position
Human AssemblyChrPosition (strand)Source
GRCh38Y1 - 57,227,415CLINVAR
Trait Synonyms: Autism



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 14351992
Created: 2019-02-12
Species: Homo sapiens
Last Modified: 2020-02-20
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.