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Variant : CV237933 (Single allele) Homo sapiens

Symbol: CV237933
Name: Single allele
Condition: Autism spectrum disorder [RCV000225489]
Clinical Significance: likely pathogenic
Last Evaluated: 10/12/2015
Review Status: criteria provided, single submitter|no assertion criteria provided
Related Genes: ACVR1   ACVR1C   CYTIP   ERMN   GALNT5   GPD2   KCNJ3   LINC01876   NR4A2   TRA-CGC3-1   TRG-GCC2-2  
Variant Type: deletion (SO:0000159)
Evidence: research
HGVS Name(s): NC_000002.12:g.154507239_157810705del
Human AssemblyChrPosition (strand)Source
GRCh382154,507,239 - 157,810,705CLINVAR
GRCh372155,363,751 - 158,667,217CLINVAR
Cytogenetic Map22q24.1CLINVAR
Trait Synonyms: Autism spectrum disorders; Autism susceptibility

Disease Annotations
References - uncurated

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 11345438
Created: 2016-07-12
Species: Homo sapiens
Last Modified: 2020-08-04
Status: ACTIVE


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