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Variant : CV72814 (GRCh38/hg38 7q11.23(chr7:73280574-74725240)x3) Homo sapiens

Symbol: CV72814
Name: GRCh38/hg38 7q11.23(chr7:73280574-74725240)x3
Condition: Obesity [RCV000051967]|See cases [RCV000051967]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ABHD11   ABHD11-AS1   BAZ1B   BCL7B   BUD23   CLDN3   CLDN4   CLIP2   DNAJC30   EIF4H   ELN   FKBP6   FZD9   GTF2I   GTF2IRD1   LAT2   LIMK1   METTL27   MIR10525   MIR4284   MIR590   MLXIPL   NSUN5   RFC2   STX1A   TBL2   TMEM270   TRIM50   VPS37D  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000007.14:g.(?_73280574)_(74725240_?)dup
NC_000007.13:g.(?_72665462)_(74139573_?)dup
NC_000007.12:g.(?_72303398)_(73777509_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh38773,280,574 - 74,725,240CLINVAR
GRCh37772,665,462 - 74,139,573CLINVAR
Build 36772,303,398 - 73,777,509CLINVAR
Cytogenetic Map77q11.23CLINVAR
Age Of Onset: neonatal/infancy
Prevalence: 1-5 / 10 000



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8618976
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-01-21
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.