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Variant : CV553989 (GRCh37/hg19 3q13.13-13.31(chr3:110645295-115103586)x1) Homo sapiens

Symbol: CV553989
Name: GRCh37/hg19 3q13.13-13.31(chr3:110645295-115103586)x1
Condition: not provided [RCV000682294]
Clinical Significance: pathogenic
Last Evaluated: 12/29/2017
Review Status: no assertion criteria provided
Related Genes: ABHD10   ATG3   ATP6V1A   BOC   BTLA   C3orf52   CCDC191   CCDC80   CD200   CD200R1   CD200R1L   CD96   CFAP44   DRD3   GCSAM   GRAMD1C   GTPBP8   NAA50   NECTIN3   NECTIN3-AS1   NEPRO   PHLDB2   PLCXD2   QTRT2   SIDT1   SLC35A5   SLC9C1   SPICE1   TAGLN3   TIGIT   TMPRSS7   USF3   ZBED2   ZBTB20   ZDHHC23   ZNF80  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
Human AssemblyChrPosition (strand)Source
GRCh373110,645,295 - 115,103,586CLINVAR
Cytogenetic Map33q13.13-13.31CLINVAR

Additional Information

External Database Links
RGD Object Information
RGD ID: 13795071
Created: 2018-10-09
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.