Variant ID: 19-48543931-T-A

NM_019855.4(CABP5):c.169A>T;(p.Met57Leu)

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: CABP5: M57L
PubMed Link: 24987033
Variant Present in the following documents:
  • Main text
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000293255.2 c.169A>T p.Met57Leu missense_variant 3/6 -
NM_019855.5 c.169A>T p.Met57Leu missense_variant 3/6 -