Variant ID: 2-21255379-C-T

NM_000384.2(APOB):c.1199G>A;(p.Arg400His)

This variant was identified in 2 publications




Publications:


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: APOB: 1199G>A; R400H
PubMed Link: 24987033
Variant Present in the following documents:
  • jmedgenet-2014-102405-s1.pdf
View BVdb publication page



Use of targeted exome sequencing as a diagnostic tool for Familial Hypercholesterolaemia.

Journal Of Medical Genetics
M Futema, V Plagnol, RA Whittall, HA Neil, , SE Humphries,
Publication Date: 2012-10

Variant appearance in text: APOB: 1199G>A
PubMed Link: 23054246
Variant Present in the following documents:
  • jmedgenet-2012-101189-s1.pdf
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000233242.1 c.1199G>A p.Arg400His missense_variant 10/29 -
ENST00000399256.4 c.1199G>A p.Arg400His missense_variant 10/17 -
NM_000384.3 c.1199G>A p.Arg400His missense_variant 10/29 -