Variant ID: 7-66104107-C-T


This variant was identified in 1 publication


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: S253L
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.758C>T p.Ser253Leu missense_variant 4/4 -
ENST00000443322.1 c.758C>T p.Ser253Leu missense_variant 4/5 -
ENST00000503687.1 c.397+191C>T - intron_variant,NMD_transcript_variant - 3/12
NM_001167961.2 c.758C>T p.Ser253Leu missense_variant 4/5 -
NM_153033.4 c.758C>T p.Ser253Leu missense_variant 4/4 -