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Variant : CV164049 (GRCh38/hg38 4q13.2-13.3(chr4:67744481-70267689)x1) Homo sapiens

Symbol: CV164049
Name: GRCh38/hg38 4q13.2-13.3(chr4:67744481-70267689)x1
Condition: See cases [RCV000142366]
Clinical Significance: uncertain significance
Last Evaluated: 03/18/2014
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: CSN1S1   CSN2   CSN3   FDCSP   GNRHR   HTN1   HTN3   ODAM   PRR27   STATH   SULT1B1   SULT1E1   TMPRSS11A   TMPRSS11B   TMPRSS11D   TMPRSS11E   TMPRSS11F   UGT2A1   UGT2A2   UGT2A3   UGT2B10   UGT2B11   UGT2B15   UGT2B17   UGT2B28   UGT2B4   UGT2B7   YTHDC1  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
HGVS Name(s): NC_000004.12:g.(?_67744481)_(70267689_?)del
Human AssemblyChrPosition (strand)Source
GRCh38467,744,481 - 70,267,689CLINVAR
GRCh37468,610,199 - 71,133,406CLINVAR
Build 36468,292,794 - 71,167,995CLINVAR
Cytogenetic Map44q13.2-13.3CLINVAR

References - uncurated

Additional Information

External Database Links
RGD Object Information
RGD ID: 9489885
Created: 2014-09-09
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.