Variant ID: 1-15813879-T-C


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: CELA2B: Y247H
PubMed Link: 24987033
Variant Present in the following documents:
  • Main text
View BVdb publication page

Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000375910.3 c.739T>C p.Tyr247His missense_variant 7/8 -
ENST00000488764.1 n.286T>C - non_coding_transcript_exon_variant 2/3 -
NM_015849.3 c.739T>C p.Tyr247His missense_variant 7/8 -