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Variant : CV178808 (LIPE, 2-BP INS, CG) Homo sapiens

Symbol: CV178808
Name: LIPE, 2-BP INS, CG
Condition: Abdominal obesity-metabolic syndrome 4 [RCV000157608]|Familial partial lipodystrophy 6 [RCV000157608]
Clinical Significance: pathogenic
Last Evaluated: 02/06/2015
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: LIPE  
Variant Type: insertion (SO:0000667)
Nucleotide Change: 2-bp ins, cg
Evidence: literature only
Human AssemblyChrPosition (strand)Source
Cytogenetic Map1919q13.2CLINVAR
Trait Synonyms: Abdominal obesity-metabolic syndrome 4; LIPODYSTROPHY, FAMILIAL PARTIAL, ASSOCIATED WITH LIPE MUTATIONS
Age Of Onset: adult
Prevalence: <1 / 1 000 000

Disease Annotations
References - curated

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 9831466
Created: 2015-03-10
Species: Homo sapiens
Last Modified: 2019-12-03
Status: ACTIVE


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