Variant ID: 19-11230838-T-G

NM_000527.4(LDLR):c.1916T>G;(p.Val639Gly)

This variant was identified in 1 publication




Publications:


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: V639G
PubMed Link: 23535506
Variant Present in the following documents:
  • Main text
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000252444.5 c.2171T>G p.Val724Gly missense_variant 13/18 -
ENST00000455727.2 c.1412T>G p.Val471Gly missense_variant 11/16 -
ENST00000535915.1 c.1793T>G p.Val598Gly missense_variant 12/17 -
ENST00000545707.1 c.1535T>G p.Val512Gly missense_variant 12/16 -
ENST00000557933.1 c.1916T>G p.Val639Gly missense_variant 13/18 -
ENST00000558013.1 c.1916T>G p.Val639Gly missense_variant 13/18 -
ENST00000558518.1 c.1916T>G p.Val639Gly missense_variant 13/18 -
ENST00000559340.1 c.498T>G p.Cys166Trp missense_variant,NMD_transcript_variant 4/5 -
NM_000527.5 c.1916T>G p.Val639Gly missense_variant 13/18 -
NM_001195798.2 c.1916T>G p.Val639Gly missense_variant 13/18 -
NM_001195799.2 c.1793T>G p.Val598Gly missense_variant 12/17 -
NM_001195800.2 c.1412T>G p.Val471Gly missense_variant 11/16 -
NM_001195803.2 c.1535T>G p.Val512Gly missense_variant 12/16 -