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Variant : CV535463 (NC_000016.10:g.(?_29480853)_(30254620_?)del) Homo sapiens

Symbol: CV535463
Name: NC_000016.10:g.(?_29480853)_(30254620_?)del
Condition: Autistic disorder of childhood onset [RCV000754183]
Clinical Significance: pathogenic
Last Evaluated: 03/20/2018
Review Status: criteria provided, single submitter
Related Genes: ALDOA   ALDOA   ASPHD1   BOLA2B   C16orf54   C16orf92   CDIPT   CDIPTOSP   CORO1A   DOC2A   GDPD3   HIRIP3   INO80E   KCTD13   KIF22   MAPK3   MAZ   MIR3680-2   MVP   NPIPB12   NPIPB13   PAGR1   PPP4C   PRRT2   QPRT   SEZ6L2   SLX1A   SLX1A-SULT1A3   SPN   SULT1A3   TAOK2   TBX6   TLCD3B   TMEM219   YPEL3   ZG16  
Variant Type: deletion (SO:0000159)
Source: CLINVAR
Evidence: research
HGVS Name(s): NC_000016.10:g.(?_29480853)_(30254620_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh381629,480,853 - 30,254,620CLINVAR
Cytogenetic Map1616p11.2CLINVAR



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 14351741
Created: 2019-02-12
Species: Homo sapiens
Last Modified: 2020-09-08
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.