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Variant : CV74724 (GRCh38/hg38 3q27.1(chr3:184239109-184391437)x1) Homo sapiens

Symbol: CV74724
Name: GRCh38/hg38 3q27.1(chr3:184239109-184391437)x1
Condition: Obesity [RCV000054002]|See cases [RCV000054002]
Clinical Significance: uncertain significance
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ALG3   CAMK2N2   CHRD   CLCN2   ECE2   EEF1AKMT4   EEF1AKMT4-ECE2   EIF4G1   FAM131A   MIR1224   POLR2H   PSMD2   SNORD66   THPO   VWA5B2  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000003.12:g.(?_184239109)_(184391437_?)del
NC_000003.11:g.(?_183956897)_(184109225_?)del
NC_000003.10:g.(?_185439591)_(185591919_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh383184,239,109 - 184,391,437CLINVAR
GRCh373183,956,897 - 184,109,225CLINVAR
Build 363185,439,591 - 185,591,919CLINVAR
Cytogenetic Map33q27.1CLINVAR
Age Of Onset: neonatal/infancy
Prevalence: 1-5 / 10 000



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8620916
Created: 2014-05-13
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.