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Variant : CV161469 (GRCh38/hg38 4q21.21-21.3(chr4:80043949-86948317)x1) Homo sapiens

Symbol: CV161469
Name: GRCh38/hg38 4q21.21-21.3(chr4:80043949-86948317)x1
Condition: See cases [RCV000140416]
Clinical Significance: pathogenic
Last Evaluated: 04/30/2011
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ABRAXAS1   AFF1   AFF1-AS1   ANTXR2   ARHGAP24   BMP3   C4orf36   CDS1   CFAP299   COPS4   COQ2   ENOPH1   FGF5   GPAT3   HELQ   HNRNPD   HNRNPDL   HPSE   LIN54   LINC00575   MAPK10   MAPK10-AS1   MIR4451   MIR4452   MIR575   MRPS18C   NKX6-1   PLAC8   PRDM8   PRKG2   PTPN13   RASGEF1B   SCD5   SEC31A   SLC10A6   SNORD143   SNORD144   THAP9   THAP9-AS1   TMEM150C   WDFY3   WDFY3-AS2  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
HGVS Name(s): NC_000004.12:g.(?_80043949)_(86948317_?)del
Human AssemblyChrPosition (strand)Source
GRCh38480,043,949 - 86,948,317CLINVAR
GRCh37480,965,103 - 87,869,469CLINVAR
Build 36481,184,127 - 88,088,493CLINVAR
Cytogenetic Map44q21.21-21.3CLINVAR

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 9487946
Created: 2014-09-09
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.