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Variant : CV380693 (GRCh37/hg19 3q13.11-13.32(chr3:105094834-117441953)x1) Homo sapiens

Symbol: CV380693
Name: GRCh37/hg19 3q13.11-13.32(chr3:105094834-117441953)x1
Condition: See cases [RCV000448410]
Clinical Significance: pathogenic
Last Evaluated:
Review Status: no assertion criteria provided
Related Genes: ABHD10   ALCAM   ATG3   ATP6V1A   BBX   BOC   BTLA   C3orf52   CBLB   CCDC191   CCDC54   CCDC80   CD200   CD200R1   CD200R1L   CD47   CD96   CFAP44   CIP2A   DPPA2   DPPA4   DRD3   DZIP3   GAP43   GCSAM   GRAMD1C   GTPBP8   GUCA1C   HHLA2   IFT57   LSAMP   MORC1   MORC1-AS1   MYH15   NAA50   NECTIN3   NECTIN3-AS1   NEPRO   PHLDB2   PLCXD2   QTRT2   RETNLB   SIDT1   SLC35A5   SLC9C1   SPICE1   TAGLN3   TIGIT   TMPRSS7   TRAT1   USF3   ZBED2   ZBTB20   ZDHHC23   ZNF80  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
Human AssemblyChrPosition (strand)Source
GRCh373105,094,834 - 117,441,953CLINVAR
Cytogenetic Map33q13.11-13.32CLINVAR

References - uncurated

Additional Information

External Database Links
RGD Object Information
RGD ID: 12853118
Created: 2017-04-11
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.