Variant ID: 7-66104163-G-A

NM_153033.4(KCTD7):c.814G>A;(p.Val272Met)

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: KCTD7: V272M
PubMed Link: 24987033
Variant Present in the following documents:
  • Main text
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000275532.3 c.814G>A p.Val272Met missense_variant 4/4 -
ENST00000443322.1 c.814G>A p.Val272Met missense_variant 4/5 -
ENST00000503687.1 c.397+247G>A - intron_variant,NMD_transcript_variant - 3/12
NM_001167961.2 c.814G>A p.Val272Met missense_variant 4/5 -
NM_153033.4 c.814G>A p.Val272Met missense_variant 4/4 -