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Variant : CV437066 (GRCh37/hg19 7p22.1(chr7:4839046-7110343)x3) Homo sapiens

Symbol: CV437066
Name: GRCh37/hg19 7p22.1(chr7:4839046-7110343)x3
Condition: See cases [RCV000511909]
Clinical Significance: likely pathogenic
Last Evaluated: 06/22/2015
Review Status: no assertion criteria provided
Related Genes: ACTB   AIMP2   C7orf26   CCZ1   CCZ1B   CYTH3   DAGLB   EIF2AK1   FAM220A   FBXL18   FSCN1   GRID2IP   KDELR2   MMD2   OCM   PAPOLB   PMS2   RAC1   RADIL   RBAK   RBAK-RBAKDN   RNF216   RSPH10B   RSPH10B2   SLC29A4   TNRC18   USP42   WIPI2   ZDHHC4   ZNF12   ZNF316   ZNF853  
Variant Type: copy number gain (SO:0001742)
Evidence: clinical testing
Human AssemblyChrPosition (strand)Source
GRCh3774,839,046 - 7,110,343CLINVAR
Cytogenetic Map77p22.1CLINVAR

References - uncurated

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 13444878
Created: 2017-11-07
Species: Homo sapiens
Last Modified: 2020-03-31
Status: ACTIVE


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