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Variant : CV383318 (GRCh37/hg19 13q14.2-14.3(chr13:48906943-52778614)x1) Homo sapiens

Symbol: CV383318
Name: GRCh37/hg19 13q14.2-14.3(chr13:48906943-52778614)x1
Condition: See cases [RCV000448535]
Clinical Significance: pathogenic
Last Evaluated:
Review Status: no assertion criteria provided
Related Genes: ALG11   ARL11   ATP7B   CAB39L   CCDC70   CDADC1   CYSLTR2   DHRS12   DLEU1   DLEU2   DLEU7   EBPL   FAM124A   FNDC3A   INTS6   KCNRG   KPNA3   LPAR6   MIR15A   MIR16-1   MLNR   NEK3   NEK5   PHF11   RB1   RCBTB1   RCBTB2   RNASEH2B   SERPINE3   SETDB2   SPRYD7   TRIM13   UTP14C   WDFY2  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
Human AssemblyChrPosition (strand)Source
GRCh371348,906,943 - 52,778,614CLINVAR
Cytogenetic Map1313q14.2-14.3CLINVAR

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 12853242
Created: 2017-04-11
Species: Homo sapiens
Last Modified: 2020-01-07
Status: ACTIVE


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