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Variant : CV163816 (GRCh38/hg38 3q13.2-13.31(chr3:112425234-115795585)x1) Homo sapiens

Symbol: CV163816
Name: GRCh38/hg38 3q13.2-13.31(chr3:112425234-115795585)x1
Condition: See cases [RCV000142219]
Clinical Significance: pathogenic
Last Evaluated: 12/03/2013
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ATG3   ATP6V1A   BOC   BTLA   CCDC191   CCDC80   CD200R1   CD200R1L   CD200R1L-AS1   CFAP44   CFAP44-AS1   DRD3   GAP43   GRAMD1C   GTPBP8   LINC02042   LINC02044   LOC110120631   LOC110121175   LOC110121187   LOC111255649   LOC112848343   MIR4446   MIR4796   MIR568   MIR8076   MIR9900   NAA50   NEPRO   QTRT2   SIDT1   SLC35A5   SPICE1   TIGIT   USF3   ZBTB20   ZBTB20-AS1   ZBTB20-AS3   ZBTB20-AS4   ZBTB20-AS5   ZDHHC23   ZNF80  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
HGVS Name(s): NC_000003.12:g.(?_112425234)_(115795585_?)del
Human AssemblyChrPosition (strand)Source
GRCh383112,425,234 - 115,795,585CLINVAR
GRCh373112,144,081 - 115,514,432CLINVAR
Build 363113,626,771 - 116,997,122CLINVAR
Cytogenetic Map33q13.2-13.31CLINVAR

References - uncurated

Additional Information

External Database Links
RGD Object Information
RGD ID: 9489738
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-10-15
Status: ACTIVE


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