Variant ID: 14-73538399-T-C

NM_021239.2(RBM25):c.50T>C;(p.Leu17Pro)

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: L17P
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.50T>C p.Leu17Pro missense_variant 2/19 -
ENST00000525161.1 c.50T>C p.Leu17Pro missense_variant 2/5 -
ENST00000525321.1 c.50T>C p.Leu17Pro missense_variant 2/9 -
ENST00000526754.1 c.50T>C p.Leu17Pro missense_variant 2/11 -
ENST00000527432.1 c.50T>C p.Leu17Pro missense_variant 3/20 -
ENST00000528081.1 c.50T>C p.Leu17Pro missense_variant,NMD_transcript_variant 1/18 -
ENST00000531500.1 c.50T>C p.Leu17Pro missense_variant 3/8 -
ENST00000532683.1 n.229T>C - non_coding_transcript_exon_variant 2/17 -
ENST00000540173.1 c.50T>C p.Leu17Pro missense_variant 2/10 -
NM_021239.3 c.50T>C p.Leu17Pro missense_variant 2/19 -