Variant ID: 14-64065801-T-C

NM_080666.3(WDR89):c.860A>G;(p.Asp287Gly)

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: WDR89: D287G
PubMed Link: 24987033
Variant Present in the following documents:
  • Main text
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000267522.3 c.860A>G p.Asp287Gly missense_variant 3/3 -
ENST00000394942.2 c.860A>G p.Asp287Gly missense_variant 2/2 -
ENST00000553983.1 n.138-20T>C - intron_variant,non_coding_transcript_variant - 1/1
NM_001008726.3 c.860A>G p.Asp287Gly missense_variant 4/4 -
NM_001258272.2 c.860A>G p.Asp287Gly missense_variant 3/3 -
NM_080666.4 c.860A>G p.Asp287Gly missense_variant 3/3 -