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Variant : CV161148 (GRCh38/hg38 2q13-14.1(chr2:110684553-112344958)x1) Homo sapiens

Symbol: CV161148
Name: GRCh38/hg38 2q13-14.1(chr2:110684553-112344958)x1
Condition: See cases [RCV000140112]
Clinical Significance: likely pathogenic
Last Evaluated: 04/30/2011
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ACOXL   ACOXL-AS1   ANAPC1   BCL2L11   FBLN7   MERTK   MIR4435-2   MIR4435-2HG   MIR4771-2   SOCAR   TMEM87B   ZC3H6   ZC3H8  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
HGVS Name(s): NC_000002.12:g.(?_110684553)_(112344958_?)del
Human AssemblyChrPosition (strand)Source
GRCh382110,684,553 - 112,344,958CLINVAR
GRCh372111,442,130 - 113,102,535CLINVAR
Build 362111,158,601 - 112,819,006CLINVAR
Cytogenetic Map22q13-14.1CLINVAR

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 9487642
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-06-23
Status: ACTIVE


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