Variant ID: 14-73572685-A-G

NM_021239.2(RBM25):c.1273A>G;(p.Arg425Gly)

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: R425G
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.1273A>G p.Arg425Gly missense_variant 11/19 -
ENST00000527432.1 c.1273A>G p.Arg425Gly missense_variant 12/20 -
ENST00000528081.1 c.*825A>G - 3_prime_UTR_variant,NMD_transcript_variant 10/18 -
ENST00000532683.1 n.4893A>G - non_coding_transcript_exon_variant 10/17 -
NM_021239.3 c.1273A>G p.Arg425Gly missense_variant 11/19 -