View all transcript variants in gene LIPC

Information The variants shown are described using the NM_000236.2 transcript reference sequence.

3 entries on 1 page. Showing entries 1 - 3.
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Effect     

AscendingDNA change (cDNA)     

Protein     

GVS function     

Position     

Exon     

PolyPhen     

RNA change     

SIFT     

Chr     

Allele     

Type     

DNA change (genomic) (hg19)     

Published as     

GERP     

Segregation     

DB-ID     

MSCV     

dbSNP ID     

Frequency     

Sources     

Reference     

Variant remarks     

Genetic origin     

Variant_disease     

Owner     
./. c.-293G>A p.(=) - - - - r.(=) - 15 Unknown - g.58723939G>A - - - LIPC_000003 MSCV_0017534 - - ; clinvar; - - - - -
+/+ c.866C>T p.(Ser289Phe) missense_variant - 6/9 probably_damaging(0.996) r.(?) deleterious(0) 15 Unknown subst g.58840586C>T - 4.270 - LIPC_000002 MSCV_0002322 rs121912502 - ; clinvar; 1671786;1883393 - - - -
+/+ c.1214C>T p.(Thr405Met) missense_variant - 8/9 probably_damaging(0.998) r.(?) tolerated(0.13) 15 Unknown subst g.58855748C>T - 5.900 - LIPC_000001 MSCV_0002323 rs113298164 - ; clinvar; 12777476;1671786;1883393 - - - -
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