LIPC, lipase C, hepatic type, 3990

N. diseases: 120; N. variants: 95
Disease: HEPATIC LIPASE DEFICIENCY (disorder) ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912502
rs121912502
Entrez Id: 3990
Gene Symbol: LIPC
LIPC
CUI: C3151466
Disease:
HEPATIC LIPASE DEFICIENCY (disorder) 		0.710 GeneticVariation UNIPROT 18 bp insertion/duplication with internal missense mutation in human hepatic lipase gene exon 3. Mutations in brief no. 181. Online. 10660332 1998
dbSNP: rs121912502
rs121912502
Entrez Id: 3990
Gene Symbol: LIPC
LIPC
CUI: C3151466
Disease:
HEPATIC LIPASE DEFICIENCY (disorder) 		0.710 GeneticVariation UNIPROT Human hepatic lipase mutations and polymorphisms. 1301939 1992
dbSNP: rs121912502
rs121912502
Entrez Id: 3990
Gene Symbol: LIPC
LIPC
CUI: C3151466
Disease:
HEPATIC LIPASE DEFICIENCY (disorder) 		0.710 GeneticVariation BEFREE We now report the identification of three more hepatic lipase gene mutations in this family and demonstrate that compound heterozygosity for two hepatic lipase mutations (designated S267F and T383M) underlies hepatic lipase deficiency. 1883393 1991