Variant ID: 14-73580994-G-A

NM_021239.2(RBM25):c.2392G>A;(p.Val798Ile)

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: V798I
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.2392G>A p.Val798Ile missense_variant,splice_region_variant 18/19 -
ENST00000527432.1 c.2392G>A p.Val798Ile missense_variant,splice_region_variant 19/20 -
ENST00000527449.1 n.1821G>A - splice_region_variant,non_coding_transcript_exon_variant 5/6 -
ENST00000528081.1 c.*1944G>A - splice_region_variant,3_prime_UTR_variant,NMD_transcript_variant 17/18 -
ENST00000532483.1 n.1005G>A - splice_region_variant,non_coding_transcript_exon_variant 8/8 -
ENST00000532683.1 n.6384G>A - splice_region_variant,non_coding_transcript_exon_variant 16/17 -
NM_021239.3 c.2392G>A p.Val798Ile missense_variant,splice_region_variant 18/19 -