Variant ID: 19-11213420-G-C

NM_000527.4(LDLR):c.271G>C;(p.Gly91Arg)

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: LDLR: G91R
PubMed Link: 24987033
Variant Present in the following documents:
  • Main text
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000252444.5 c.526G>C p.Gly176Arg missense_variant 3/18 -
ENST00000455727.2 c.271G>C p.Gly91Arg missense_variant 3/16 -
ENST00000535915.1 c.190+2399G>C - intron_variant - 2/16
ENST00000545707.1 c.271G>C p.Gly91Arg missense_variant 3/16 -
ENST00000557933.1 c.271G>C p.Gly91Arg missense_variant 3/18 -
ENST00000557958.1 n.357G>C - non_coding_transcript_exon_variant 3/3 -
ENST00000558013.1 c.271G>C p.Gly91Arg missense_variant 3/18 -
ENST00000558518.1 c.271G>C p.Gly91Arg missense_variant 3/18 -
NM_000527.5 c.271G>C p.Gly91Arg missense_variant 3/18 -
NM_001195798.2 c.271G>C p.Gly91Arg missense_variant 3/18 -
NM_001195799.2 c.190+2399G>C - intron_variant - 2/16
NM_001195800.2 c.271G>C p.Gly91Arg missense_variant 3/16 -
NM_001195803.2 c.271G>C p.Gly91Arg missense_variant 3/16 -