Variant ID: 8-101719198-C-T


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: PABPC1: R455H
PubMed Link: 24987033
Variant Present in the following documents:
  • Main text
View BVdb publication page

Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000318607.5 c.1364G>A p.Arg455His missense_variant 10/15 -
ENST00000517403.1 c.323G>A p.Arg108His missense_variant 4/5 -
ENST00000518716.1 n.508G>A - non_coding_transcript_exon_variant 3/4 -
ENST00000519004.1 c.1229G>A p.Arg410His missense_variant 11/16 -
ENST00000519596.1 n.743-248G>A - intron_variant,non_coding_transcript_variant - 5/5
ENST00000519848.1 n.222G>A - non_coding_transcript_exon_variant 1/4 -
ENST00000522387.1 c.1268G>A p.Arg423His missense_variant 11/16 -
ENST00000522658.1 c.5G>A p.Arg2His missense_variant 1/5 -
ENST00000523636.1 c.408-1297G>A - intron_variant,NMD_transcript_variant - 3/6
NM_002568.4 c.1364G>A p.Arg455His missense_variant 10/15 -