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Variant : CV237927 (Single allele) Homo sapiens

Symbol: CV237927
Name: Single allele
Condition: Autism spectrum disorder [RCV000225455]|Autism spectrum disorders [RCV000225455]
Clinical Significance: pathogenic
Last Evaluated: 10/12/2015
Review Status: criteria provided, single submitter
Related Genes: ATP10A   CYFIP1   GABRA5   GABRB3   GABRG3   GOLGA6L1   GOLGA6L2   GOLGA6L6   HERC2   IPW   MAGEL2   MKRN3   NDN   NIPA1   NIPA2   NPAP1   OCA2   OR4M2   OR4N4   POTEB   POTEB2   PWAR1   PWAR4   PWAR5   PWAR6   PWARSN   PWRN1   PWRN2   SNORD115-1   SNORD116-1   SNRPN   SNURF   TUBGCP5   UBE3A  
Variant Type: duplication (SO:1000035)
Evidence: research
Human AssemblyChrPosition (strand)Source
GRCh371520,044,342 - 28,924,405CLINVAR
Cytogenetic Map1515q11.1-13.1CLINVAR
Trait Synonyms: ASD; autism; Autism spectrum disorders; Autism susceptibility

Disease Annotations
References - uncurated

Additional Information

External Database Links
RGD Object Information
RGD ID: 11345427
Created: 2016-07-12
Species: Homo sapiens
Last Modified: 2019-10-01
Status: ACTIVE


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