Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Variant : CV535462 (Single allele) Homo sapiens

Symbol: CV535462
Name: Single allele
Condition: Autistic disorder of childhood onset [RCV000754182]
Clinical Significance: pathogenic
Last Evaluated: 03/20/2018
Review Status: criteria provided, single submitter
Related Genes: ALDOA   ALDOA   ASPHD1   BOLA2   BOLA2-SMG1P6   BOLA2B   C16orf54   C16orf92   CDIPT   CDIPTOSP   CORO1A   DOC2A   GDPD3   HIRIP3   INO80E   KCTD13   KIF22   MAPK3   MAZ   MIR3680-2   MVP   NPIPB11   NPIPB12   NPIPB13   PAGR1   PPP4C   PRRT2   QPRT   SEZ6L2   SLX1A   SLX1A-SULT1A3   SLX1B   SLX1B-SULT1A4   SPN   SULT1A3   SULT1A4   TAOK2   TBX6   TLCD3B   TMEM219   YPEL3   ZG16  
Variant Type: duplication (SO:1000035)
Source: CLINVAR
Evidence: research
Position
Human AssemblyChrPosition (strand)Source
GRCh381629,401,125 - 30,312,960CLINVAR
Cytogenetic Map1616p11.2CLINVAR



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 14351735
Created: 2019-02-12
Species: Homo sapiens
Last Modified: 2020-07-28
Status: ACTIVE



NHLBI Logo

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