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Variant : CV224842 (NC_000016.10:g.(?_29506378)_(30180574_?)del) Homo sapiens

Symbol: CV224842
Name: NC_000016.10:g.(?_29506378)_(30180574_?)del
Condition: Autism spectrum disorder [RCV000208742]
Clinical Significance: likely pathogenic
Last Evaluated: 08/12/2011
Review Status: no assertion criteria provided
Related Genes: ALDOA   ALDOA   ASPHD1   C16orf54   C16orf92   CDIPT   CDIPTOSP   DOC2A   GDPD3   HIRIP3   INO80E   KCTD13   KIF22   MAPK3   MAZ   MIR3680-2   MVP   PAGR1   PPP4C   PRRT2   QPRT   SEZ6L2   SPN   TAOK2   TBX6   TLCD3B   TMEM219   YPEL3   ZG16  
Variant Type: deletion (SO:0000159)
Source: CLINVAR
Evidence: research
HGVS Name(s): NC_000016.10:g.(?_29506378)_(30180574_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh381629,506,378 - 30,180,574CLINVAR
GRCh371629,517,699 - 30,191,895CLINVAR
Cytogenetic Map1616p11.2CLINVAR
Trait Synonyms: Autism spectrum disorders; Autism susceptibility



Disease Annotations
References - curated
References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 11050298
Created: 2016-04-12
Species: Homo sapiens
Last Modified: 2020-07-28
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.