Variant ID: 5-134223789-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: TXNDC15: L170V
PubMed Link: 24987033
Variant Present in the following documents:
  • Main text
View BVdb publication page

Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000358387.4 c.508C>G p.Leu170Val missense_variant 2/5 -
ENST00000507024.1 c.*326C>G - 3_prime_UTR_variant,NMD_transcript_variant 2/5 -
ENST00000508779.1 c.460C>G p.Leu154Val missense_variant 2/5 -
ENST00000508810.1 c.457C>G p.Leu153Val missense_variant 2/2 -
ENST00000511070.1 c.104-5393C>G - intron_variant,NMD_transcript_variant - 1/3
ENST00000546290.1 c.439C>G p.Leu147Val missense_variant 2/5 -
NM_001350735.1 c.304C>G p.Leu102Val missense_variant 2/5 -
NM_024715.3 c.508C>G p.Leu170Val missense_variant 2/5 -