Variant ID: 19-11226817-G-A


This variant was identified in 1 publication


The genetic spectrum of familial hypercholesterolemia in Pakistan.

Clinica Chimica Acta; International Journal Of Clinical Chemistry
W Ahmed, R Whittall, M Riaz, M Ajmal, A Sadeque, H Ayub, R Qamar, SE Humphries
Publication Date: 2013-06-05

Variant appearance in text: LDLR: G545E
PubMed Link: 23535506
Variant Present in the following documents:
  • Main text
  • mmc1.docx
View BVdb publication page

Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000252444.5 c.1889G>A p.Gly630Glu missense_variant 11/18 -
ENST00000455727.2 c.1130G>A p.Gly377Glu missense_variant 9/16 -
ENST00000535915.1 c.1511G>A p.Gly504Glu missense_variant 10/17 -
ENST00000545707.1 c.1253G>A p.Gly418Glu missense_variant 10/16 -
ENST00000557933.1 c.1634G>A p.Gly545Glu missense_variant 11/18 -
ENST00000558013.1 c.1634G>A p.Gly545Glu missense_variant 11/18 -
ENST00000558518.1 c.1634G>A p.Gly545Glu missense_variant 11/18 -
ENST00000559340.1 c.356G>A p.Gly119Glu missense_variant,NMD_transcript_variant 3/5 -
NM_000527.5 c.1634G>A p.Gly545Glu missense_variant 11/18 -
NM_001195798.2 c.1634G>A p.Gly545Glu missense_variant 11/18 -
NM_001195799.2 c.1511G>A p.Gly504Glu missense_variant 10/17 -
NM_001195800.2 c.1130G>A p.Gly377Glu missense_variant 9/16 -
NM_001195803.2 c.1253G>A p.Gly418Glu missense_variant 10/16 -