Variant ID: 12-10603578-G-A

NM_002259.4(KLRC1):c.178C>T;(p.His60Tyr)

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: H60Y
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.178C>T p.His60Tyr missense_variant 2/6 -
ENST00000359151.3 c.178C>T p.His60Tyr missense_variant 2/7 -
ENST00000408006.3 c.178C>T p.His60Tyr missense_variant 3/7 -
ENST00000536188.1 c.178C>T p.His60Tyr missense_variant 3/9 -
ENST00000537699.1 n.316C>T - non_coding_transcript_exon_variant 1/2 -
ENST00000544822.1 c.178C>T p.His60Tyr missense_variant 3/8 -
NM_001304448.1 c.178C>T p.His60Tyr missense_variant 3/9 -
NM_002259.5 c.178C>T p.His60Tyr missense_variant 2/7 -
NM_007328.4 c.178C>T p.His60Tyr missense_variant 2/6 -
NM_213657.2 c.178C>T p.His60Tyr missense_variant 3/7 -
NM_213658.2 c.178C>T p.His60Tyr missense_variant 3/8 -