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Variant : CV224841 (Single allele) Homo sapiens

Symbol: CV224841
Name: Single allele
Condition: Autism spectrum disorder [RCV000208728]|Autism spectrum disorders [RCV000208728]
Clinical Significance: likely pathogenic
Last Evaluated: 01/01/2012
Review Status: no assertion criteria provided
Related Genes: ALDOA   ASPHD1   BOLA2   BOLA2-SMG1P6   BOLA2B   C16orf54   C16orf92   CDIPT   CDIPTOSP   CORO1A   DOC2A   GDPD3   HIRIP3   INO80E   KCTD13   KIF22   MAPK3   MAZ   MIR3680-2   MVP   NPIPB11   NPIPB12   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
GRCh381629,390,980 - 30,215,610CLINVAR
GRCh371629,402,301 - 30,226,931CLINVAR
Cytogenetic Map1616p11.2CLINVAR
Trait Synonyms: ASD; autism; Autism spectrum disorders; Autism susceptibility



Disease Annotations
References - curated
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11050290
Created: 2016-04-12
Species: Homo sapiens
Last Modified: 2019-12-03
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.