Variant ID: 11-125765239-A-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: PUS3: L275P
PubMed Link: 24987033
Variant Present in the following documents:
  • Main text
View BVdb publication page

Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000227474.3 c.824T>C p.Leu275Pro missense_variant 3/4 -
ENST00000356438.3 c.-80-3760A>G - intron_variant - 2/3
ENST00000425380.2 c.-26+3872A>G - intron_variant - 2/2
ENST00000526028.1 c.-26+3872A>G - intron_variant - 2/2
ENST00000530811.1 c.824T>C p.Leu275Pro missense_variant 2/3 -
NM_001134793.1 c.-26+3872A>G - intron_variant - 2/2
NM_001271985.1 c.200T>C p.Leu67Pro missense_variant 2/3 -
NM_031307.4 c.824T>C p.Leu275Pro missense_variant 3/4 -
NM_145014.2 c.-80-3760A>G - intron_variant - 2/3