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Variant : CV157460 (GRCh38/hg38 4q21.21-21.23(chr4:79786514-85832807)x1) Homo sapiens

Symbol: CV157460
Name: GRCh38/hg38 4q21.21-21.23(chr4:79786514-85832807)x1
Condition: See cases [RCV000136865]
Clinical Significance: pathogenic
Last Evaluated: 10/14/2010
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ABRAXAS1   ANTXR2   ARHGAP24   BMP3   CDS1   CFAP299   COPS4   COQ2   ENOPH1   FGF5   GPAT3   HELQ   HNRNPD   HNRNPDL   HPSE   LIN54   LINC00575   MIR4451   MIR575   MRPS18C   NKX6-1   PCAT4   PLAC8   PRDM8   PRKG2   RASGEF1B   SCD5   SEC31A   SNORD143   SNORD144   THAP9   THAP9-AS1   TMEM150C   WDFY3   WDFY3-AS2  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000004.12:g.(?_79786514)_(85832807_?)del
NC_000004.11:g.(?_80707668)_(86753960_?)del
NC_000004.10:g.(?_80926692)_(86972984_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh38479,786,514 - 85,832,807CLINVAR
GRCh37480,707,668 - 86,753,960CLINVAR
Build 36480,926,692 - 86,972,984CLINVAR
Cytogenetic Map44q21.21-21.23CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9484426
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-01-14
Status: ACTIVE



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