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Variant : CV535508 (NC_000021.9:g.(?_38981673)_(41568791_?)del) Homo sapiens

Symbol: CV535508
Name: NC_000021.9:g.(?_38981673)_(41568791_?)del
Condition: Autistic disorder of childhood onset [RCV000754228]
Clinical Significance: likely pathogenic
Last Evaluated: 03/20/2018
Review Status: criteria provided, single submitter
Related Genes: B3GALT5   B3GALT5-AS1   BACE2   BRWD1   BRWD1-AS1   BRWD1-AS2   DSCAM   DSCAM-AS1   DSCAM-IT1   FAM3B   GET1   GET1-SH3BGR   HMGN1   IGSF5   LCA5L   LINC00323   MIR3197   MIR4760   MIR6508   MX1   MX2   PCP4   PLAC4   PSMG1   SH3BGR   TMPRSS2  
Variant Type: deletion (SO:0000159)
Evidence: research
HGVS Name(s): NC_000021.9:g.(?_38981673)_(41568791_?)del
Human AssemblyChrPosition (strand)Source
GRCh382138,981,673 - 41,568,791CLINVAR
Cytogenetic Map2121q22.2-22.3CLINVAR

Disease Annotations
References - uncurated

Additional Information

External Database Links
RGD Object Information
RGD ID: 14351824
Created: 2019-02-12
Species: Homo sapiens
Last Modified: 2020-06-23
Status: ACTIVE


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