Variant ID: 14-93650112-C-G


This variant was identified in 1 publication


Whole exome sequencing of familial hypercholesterolaemia patients negative for LDLR/APOB/PCSK9 mutations.

Journal Of Medical Genetics
M Futema, V Plagnol, K Li, RA Whittall, HA Neil, M Seed, , S Bertolini, S Calandra, OS Descamps, CA Graham, RA Hegele, F Karpe, R Durst, E Leitersdorf, N Lench, DR Nair, H Soran, FM Van Bockxmeer, , SE Humphries
Publication Date: 2014-08

Variant appearance in text: MOAP1: C159S
PubMed Link: 24987033
Variant Present in the following documents:
  • Main text
View BVdb publication page

Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000298894.4 c.476G>C p.Cys159Ser missense_variant 3/3 -
ENST00000556883.1 c.476G>C p.Cys159Ser missense_variant 2/2 -
NM_022151.5 c.476G>C p.Cys159Ser missense_variant 3/3 -