Variant ID: 2-21245819-C-G

NM_000384.2(APOB):c.2700G>C;(p.Gln900His)

This variant was identified in 1 publication




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: Q900H
PubMed Link: 24987033
Variant Present in the following documents:
  • jmedgenet-2014-102405-s1.pdf
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000233242.1 c.2700G>C p.Gln900His missense_variant 18/29 -
NM_000384.3 c.2700G>C p.Gln900His missense_variant 18/29 -