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Variant : CV654006 (GRCh37/hg19 3q13.2-13.31(chr3:112183943-115492949)x1) Homo sapiens

Symbol: CV654006
Name: GRCh37/hg19 3q13.2-13.31(chr3:112183943-115492949)x1
Condition: not provided [RCV000856645]
Clinical Significance: pathogenic
Last Evaluated: 01/01/2019
Review Status: criteria provided, single submitter
Related Genes: ATG3   ATP6V1A   BOC   BTLA   CCDC191   CCDC80   CD200R1   CD200R1L   CFAP44   DRD3   GAP43   GRAMD1C   GTPBP8   NAA50   NEPRO   QTRT2   SIDT1   SLC35A5   SPICE1   TIGIT   USF3   ZBTB20   ZDHHC23   ZNF80  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
HGVS Name(s): NC_000003.11:g.(?_112183943)_(115492949_?)del
Human AssemblyChrPosition (strand)Source
GRCh373112,183,943 - 115,492,949CLINVAR
Cytogenetic Map33q13.2-13.31CLINVAR

References - uncurated

Additional Information

External Database Links
RGD Object Information
RGD ID: 15040272
Created: 2019-12-10
Species: Homo sapiens
Last Modified: 2020-10-20
Status: ACTIVE


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