Variant ID: 19-11234003-T-G

NM_000527.4(LDLR):c.2294T>G;(p.Val765Gly)

This variant was identified in 1 publication




Publications:


Targeted genetic testing for familial hypercholesterolaemia using next generation sequencing: a population-based study.

Bmc Medical Genetics
PJ Norsworthy, J Vandrovcova, ER Thomas, A Campbell, SM Kerr, J Biggs, L Game, AK Soutar, BH Smith, AF Dominiczak, DJ Porteous, AD Morris, G Scotland, TJ Aitman
Publication Date: 2014-06-23

Variant appearance in text: LDLR: Val765Gly
PubMed Link: 24956927
Variant Present in the following documents:
  • Main text
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000252444.5 c.2549T>G p.Val850Gly missense_variant 15/18 -
ENST00000455727.2 c.1790T>G p.Val597Gly missense_variant 13/16 -
ENST00000535915.1 c.2171T>G p.Val724Gly missense_variant 14/17 -
ENST00000545707.1 c.1760T>G p.Val587Gly missense_variant 13/16 -
ENST00000557933.1 c.2294T>G p.Val765Gly missense_variant 15/18 -
ENST00000558013.1 c.2294T>G p.Val765Gly missense_variant 15/18 -
ENST00000558518.1 c.2294T>G p.Val765Gly missense_variant 15/18 -
NM_000527.5 c.2294T>G p.Val765Gly missense_variant 15/18 -
NM_001195798.2 c.2294T>G p.Val765Gly missense_variant 15/18 -
NM_001195799.2 c.2171T>G p.Val724Gly missense_variant 14/17 -
NM_001195800.2 c.1790T>G p.Val597Gly missense_variant 13/16 -
NM_001195803.2 c.1760T>G p.Val587Gly missense_variant 13/16 -