Variant ID: 12-10602517-C-A

NM_002259.4(KLRC1):c.333G>T;(p.Gln111His)

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: KLRC1: Q111H
PubMed Link: 24987033
Variant Present in the following documents:
  • Main text
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000347831.5 c.284-530G>T - intron_variant - 3/5
ENST00000359151.3 c.333G>T p.Gln111His missense_variant 4/7 -
ENST00000408006.3 c.284-530G>T - intron_variant - 4/6
ENST00000536188.1 c.333G>T p.Gln111His missense_variant 5/9 -
ENST00000544822.1 c.333G>T p.Gln111His missense_variant 5/8 -
NM_001304448.1 c.333G>T p.Gln111His missense_variant 5/9 -
NM_002259.5 c.333G>T p.Gln111His missense_variant 4/7 -
NM_007328.4 c.284-530G>T - intron_variant - 3/5
NM_213657.2 c.284-530G>T - intron_variant - 4/6
NM_213658.2 c.333G>T p.Gln111His missense_variant 5/8 -