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Variant : CV74051 (GRCh38/hg38 4q21.21-21.23(chr4:81061483-83332595)x1) Homo sapiens

Symbol: CV74051
Name: GRCh38/hg38 4q21.21-21.23(chr4:81061483-83332595)x1
Condition: Obesity [RCV000053298]|See cases [RCV000053298]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: COPS4   COQ2   ENOPH1   HNRNPD   HNRNPDL   HPSE   LIN54   LINC00575   MIR575   PLAC8   PRKG2   RASGEF1B   SCD5   SEC31A   SNORD143   SNORD144   THAP9   THAP9-AS1   TMEM150C  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000004.12:g.(?_81061483)_(83332595_?)del
NC_000004.11:g.(?_81982637)_(84253748_?)del
NC_000004.10:g.(?_82201661)_(84472772_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh38481,061,483 - 83,332,595CLINVAR
GRCh37481,982,637 - 84,253,748CLINVAR
Build 36482,201,661 - 84,472,772CLINVAR
Cytogenetic Map44q21.21-21.23CLINVAR
Age Of Onset: neonatal/infancy
Prevalence: 1-5 / 10 000



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8620235
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-01-07
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.