Variant ID: 2-21236317-T-G

NM_000384.2(APOB):c.3931A>C;(p.Lys1311Gln)

This variant was identified in 1 publication




Publications:


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: 3931A>C; K1311Q
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.3931A>C p.Lys1311Gln missense_variant 25/29 -
NM_000384.3 c.3931A>C p.Lys1311Gln missense_variant 25/29 -