Variant ID: 19-11215908-G-A

NM_000527.4(LDLR):c.326G>A;(p.Cys109Tyr)

This variant was identified in 4 publications




Publications:


Diagnostic Yield and Clinical Utility of Sequencing Familial Hypercholesterolemia Genes in Patients With Severe Hypercholesterolemia.

Journal Of The American College Of Cardiology
AV Khera, HH Won, GM Peloso, KS Lawson, TM Bartz, X Deng, EM van Leeuwen, P Natarajan, CA Emdin, AG Bick, AC Morrison, JA Brody, N Gupta, A Nomura, T Kessler, S Duga, JC Bis, CM van Duijn, LA Cupples, B Psaty, DJ Rader, J Danesh, H Schunkert, R McPherson, M Farrall, H Watkins, E Lander, JG Wilson, A Correa, E Boerwinkle, PA Merlini, D Ardissino, D Saleheen, S Gabriel, S Kathiresan
Publication Date: 2016-06-07

Variant appearance in text: LDLR: Cys109Tyr
PubMed Link: 27050191
Variant Present in the following documents:
  • NIHMS853613-supplement-Appendix.docx
View BVdb publication page



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: 326G>A; C109Y
PubMed Link: 24987033
Variant Present in the following documents:
  • jmedgenet-2014-102405-s1.pdf
View BVdb publication page



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: 326G>A; Cys109Tyr
PubMed Link: 24956927
Variant Present in the following documents:
  • Main text
View BVdb publication page



Use of targeted exome sequencing as a diagnostic tool for Familial Hypercholesterolaemia.

Journal Of Medical Genetics
M Futema, V Plagnol, RA Whittall, HA Neil, , SE Humphries,
Publication Date: 2012-10

Variant appearance in text: LDLR: 326G>A; C109Y
PubMed Link: 23054246
Variant Present in the following documents:
  • Main text
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000252444.5 c.581G>A p.Cys194Tyr missense_variant 4/18 -
ENST00000455727.2 c.314-2160G>A - intron_variant - 3/15
ENST00000535915.1 c.203G>A p.Cys68Tyr missense_variant 3/17 -
ENST00000545707.1 c.314-1333G>A - intron_variant - 3/15
ENST00000557933.1 c.326G>A p.Cys109Tyr missense_variant 4/18 -
ENST00000558013.1 c.326G>A p.Cys109Tyr missense_variant 4/18 -
ENST00000558518.1 c.326G>A p.Cys109Tyr missense_variant 4/18 -
NM_000527.5 c.326G>A p.Cys109Tyr missense_variant 4/18 -
NM_001195798.2 c.326G>A p.Cys109Tyr missense_variant 4/18 -
NM_001195799.2 c.203G>A p.Cys68Tyr missense_variant 3/17 -
NM_001195800.2 c.314-2160G>A - intron_variant - 3/15
NM_001195803.2 c.314-1333G>A - intron_variant - 3/15