Variant ID: 14-73554780-A-T

NM_021239.2(RBM25):c.454A>T;(p.Ile152Phe)

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: RBM25: I152F
PubMed Link: 24987033
Variant Present in the following documents:
  • Main text
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000261973.7 c.454A>T p.Ile152Phe missense_variant 6/19 -
ENST00000525321.1 c.454A>T p.Ile152Phe missense_variant 6/9 -
ENST00000526754.1 c.454A>T p.Ile152Phe missense_variant 6/11 -
ENST00000527432.1 c.454A>T p.Ile152Phe missense_variant 7/20 -
ENST00000528081.1 c.396A>T p.Lys132Asn missense_variant,NMD_transcript_variant 4/18 -
ENST00000531500.1 c.454A>T p.Ile152Phe missense_variant 7/8 -
ENST00000532683.1 n.633A>T - non_coding_transcript_exon_variant 6/17 -
ENST00000540173.1 c.454A>T p.Ile152Phe missense_variant 6/10 -
NM_021239.3 c.454A>T p.Ile152Phe missense_variant 6/19 -