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Variant : CV247780 (GRCh37/hg19 3q13.33-21.1(chr3:119749810-122459323)x3) Homo sapiens

Symbol: CV247780
Name: GRCh37/hg19 3q13.33-21.1(chr3:119749810-122459323)x3
Condition: See cases [RCV000240473]
Clinical Significance: likely pathogenic
Last Evaluated: 01/20/2016
Review Status: criteria provided, single submitter
Related Genes: ARGFX   CASR   CCDC58   CD86   CSTA   DTX3L   EAF2   FAM162A   FBXO40   FSTL1   GOLGB1   GPR156   GSK3B   GTF2E1   HCLS1   HGD   HSPBAP1   ILDR1   IQCB1   KPNA1   LRRC58   NDUFB4   PARP14   PARP15   PARP9   POLQ   RABL3   SLC15A2   STXBP5L   WDR5B  
Variant Type: copy number gain (SO:0001742)
Evidence: clinical testing
Human AssemblyChrPosition (strand)Source
GRCh373119,749,810 - 122,459,323CLINVAR
Cytogenetic Map33q13.33-21.1CLINVAR

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 11541865
Created: 2016-10-11
Species: Homo sapiens
Last Modified: 2020-02-11
Status: ACTIVE


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