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Variant : CV555168 (GRCh37/hg19 12q23.1(chr12:96719383-101537641)x3) Homo sapiens

Symbol: CV555168
Name: GRCh37/hg19 12q23.1(chr12:96719383-101537641)x3
Condition: not provided [RCV000683473]
Clinical Significance: likely pathogenic
Last Evaluated: 05/02/2018
Review Status: no assertion criteria provided
Related Genes: ACTR6   ANKS1B   ANO4   APAF1   CDK17   CFAP54   DEPDC4   FAM71C   GAS2L3   IKBIP   NEDD1   NR1H4   RMST   SCYL2   SLC17A8   SLC25A3   TMPO   UHRF1BP1L  
Variant Type: copy number gain (SO:0001742)
Evidence: clinical testing
Human AssemblyChrPosition (strand)Source
GRCh371296,719,383 - 101,537,641CLINVAR
Cytogenetic Map1212q23.1CLINVAR

Additional Information

External Database Links
RGD Object Information
RGD ID: 13796791
Created: 2018-10-09
Species: Homo sapiens
Last Modified: 2019-11-12
Status: ACTIVE


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