Variant ID: 19-11226873-A-C

NM_000527.4(LDLR):c.1690A>C;(p.Asn564His)

This variant was identified in 5 publications




Publications:


Validation of LDLr Activity as a Tool to Improve Genetic Diagnosis of Familial Hypercholesterolemia: A Retrospective on Functional Characterization of LDLr Variants.

International Journal Of Molecular Sciences
A Benito-Vicente, KB Uribe, S Jebari, U Galicia-Garcia, H Ostolaza, C Martin
Publication Date: 2018-06-05

Variant appearance in text: LDLR: 1690A>C; Asn564His
PubMed Link: 29874871
Variant Present in the following documents:
  • Main text
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: 1690A>C; N564H
PubMed Link: 24987033
Variant Present in the following documents:
  • Main text
  • jmedgenet-2014-102405-s1.pdf
View BVdb publication page



Quality assessment of the genetic test for familial hypercholesterolemia in the Netherlands.

Cholesterol
I Kindt, R Huijgen, M Boekel, KJ van der Gaag, JC Defesche, JJ Kastelein, P de Knijff
Publication Date: 2013

Variant appearance in text: LDLR: N564H
PubMed Link: 23936638
Variant Present in the following documents:
  • 531658.f1.doc
  • aaaaaMain 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: 1690A>C; N564H
PubMed Link: 23054246
Variant Present in the following documents:
  • Main text
View BVdb publication page



Founder mutations in the Netherlands: geographical distribution of the most prevalent mutations in the low-density lipoprotein receptor and apolipoprotein B genes.

Netherlands Heart Journal : Monthly Journal Of The Netherlands Society Of Cardiology And The Netherlands Heart Foundation
DM Kusters, R Huijgen, JC Defesche, MN Vissers, I Kindt, BA Hutten, JJ Kastelein
Publication Date: 2011-04

Variant appearance in text: LDLR: Asn564His
PubMed Link: 21475731
Variant Present in the following documents:
  • Main text
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000252444.5 c.1945A>C p.Asn649His missense_variant 11/18 -
ENST00000455727.2 c.1186A>C p.Asn396His missense_variant 9/16 -
ENST00000535915.1 c.1567A>C p.Asn523His missense_variant 10/17 -
ENST00000545707.1 c.1309A>C p.Asn437His missense_variant 10/16 -
ENST00000557933.1 c.1690A>C p.Asn564His missense_variant 11/18 -
ENST00000558013.1 c.1690A>C p.Asn564His missense_variant 11/18 -
ENST00000558518.1 c.1690A>C p.Asn564His missense_variant 11/18 -
ENST00000559340.1 c.412A>C p.Asn138His missense_variant,NMD_transcript_variant 3/5 -
NM_000527.5 c.1690A>C p.Asn564His missense_variant 11/18 -
NM_001195798.2 c.1690A>C p.Asn564His missense_variant 11/18 -
NM_001195799.2 c.1567A>C p.Asn523His missense_variant 10/17 -
NM_001195800.2 c.1186A>C p.Asn396His missense_variant 9/16 -
NM_001195803.2 c.1309A>C p.Asn437His missense_variant 10/16 -