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Variant : CV224845 (Single allele) Homo sapiens

Symbol: CV224845
Name: Single allele
Condition: Autism spectrum disorder [RCV000208741]|Autism spectrum disorders [RCV000208741]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: no assertion criteria provided
Related Genes: ACR   ADM2   ALG12   ARSA   BRD1   CHKB   CPT1B   CRELD2   DENND6B   HDAC10   IL17REL   KLHDC7B   LMF2   MAPK11   MAPK12   MAPK8IP2   MIOX   MLC1   MOV10L1   NCAPH2   ODF3B   PANX2   PIM3   PLXNB2   PPP6R2   SBF1   SCO2   SELENOO   SHANK3   SYCE3   TAFA5   TRABD   TTLL8   TUBGCP6   TYMP   ZBED4  
Variant Type: deletion (SO:0000159)
Evidence: research
Human AssemblyChrPosition (strand)Source
GRCh372249,033,233 - 51,193,680CLINVAR
Cytogenetic Map2222q13.32-13.33CLINVAR
Trait Synonyms: ASD; autism; Autism spectrum disorders; Autism susceptibility; Epilepsy; Seizure Disorders

Disease Annotations
References - curated
References - uncurated

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 11050297
Created: 2016-04-12
Species: Homo sapiens
Last Modified: 2020-01-14
Status: ACTIVE


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