Variant ID: 19-11223963-C-A


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: LDLR: 1196C>A; A399D
PubMed Link: 24987033
Variant Present in the following documents:
  • jmedgenet-2014-102405-s1.pdf
View BVdb publication page

Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000252444.5 c.1451C>A p.Ala484Asp missense_variant 9/18 -
ENST00000455727.2 c.692C>A p.Ala231Asp missense_variant 7/16 -
ENST00000535915.1 c.1073C>A p.Ala358Asp missense_variant 8/17 -
ENST00000545707.1 c.815C>A p.Ala272Asp missense_variant 8/16 -
ENST00000557933.1 c.1196C>A p.Ala399Asp missense_variant 9/18 -
ENST00000558013.1 c.1196C>A p.Ala399Asp missense_variant 9/18 -
ENST00000558518.1 c.1196C>A p.Ala399Asp missense_variant 9/18 -
ENST00000560173.1 n.195C>A - non_coding_transcript_exon_variant 3/3 -
ENST00000560467.1 c.677C>A p.Ala226Asp missense_variant 5/6 -
NM_000527.5 c.1196C>A p.Ala399Asp missense_variant 9/18 -
NM_001195798.2 c.1196C>A p.Ala399Asp missense_variant 9/18 -
NM_001195799.2 c.1073C>A p.Ala358Asp missense_variant 8/17 -
NM_001195800.2 c.692C>A p.Ala231Asp missense_variant 7/16 -
NM_001195803.2 c.815C>A p.Ala272Asp missense_variant 8/16 -