Variant ID: 19-11213417-G-A

NM_000527.4(LDLR):c.268G>A;(p.Asp90Asn)

This variant was identified in 7 publications




Publications:


Genetic Diagnosis of Familial Hypercholesterolemia in Asia.

Frontiers In Genetics
CC Huang, MJ Charng
Publication Date: 2020

Variant appearance in text: LDLR: 268G>A; D90N
PubMed Link: 32793292
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic variations in familial hypercholesterolemia and cascade screening in East Asians.

Molecular Genetics & Genomic Medicine
ML Chan, CL Cheung, AC Lee, CY Yeung, CW Siu, JY Leung, HK Pang, KC Tan
Publication Date: 2019-02

Variant appearance in text: LDLR: 268G>A
PubMed Link: 30592178
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: 268G>A; Asp90Asn
PubMed Link: 29874871
Variant Present in the following documents:
  • Main text
View BVdb publication page



The distribution and characteristics of LDL receptor mutations in China: A systematic review.

Scientific Reports
L Jiang, LY Sun, YF Dai, SW Yang, F Zhang, LY Wang
Publication Date: 2015-11-26

Variant appearance in text: LDLR: 268G>A
PubMed Link: 26608663
Variant Present in the following documents:
  • Main text
  • srep17272-s1.doc
View BVdb publication page



Genetic testing of Korean familial hypercholesterolemia using whole-exome sequencing.

Plos One
SM Han, B Hwang, TG Park, DI Kim, MY Rhee, BK Lee, YK Ahn, BR Cho, J Woo, SH Hur, JO Jeong, S Park, Y Jang, MG Lee, D Bang, JH Lee, SH Lee
Publication Date: 2015

Variant appearance in text: LDLR: 268G>A; D90N
PubMed Link: 25962062
Variant Present in the following documents:
  • Main text
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: 268G>A; Asp90Asn
PubMed Link: 24956927
Variant Present in the following documents:
  • Main text
View BVdb publication page



Novel TMPRSS3 variants in Pakistani families with autosomal recessive non-syndromic hearing impairment.

Clinical Genetics
K Lee, S Khan, A Islam, M Ansar, PB Andrade, S Kim, RL Santos-Cortez, W Ahmad, SM Leal
Publication Date: 2012-07

Variant appearance in text: LDLR: 268G>A
PubMed Link: 21534946
Variant Present in the following documents:
  • Main text
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000252444.5 c.523G>A p.Asp175Asn missense_variant 3/18 -
ENST00000455727.2 c.268G>A p.Asp90Asn missense_variant 3/16 -
ENST00000535915.1 c.190+2396G>A - intron_variant - 2/16
ENST00000545707.1 c.268G>A p.Asp90Asn missense_variant 3/16 -
ENST00000557933.1 c.268G>A p.Asp90Asn missense_variant 3/18 -
ENST00000557958.1 n.354G>A - non_coding_transcript_exon_variant 3/3 -
ENST00000558013.1 c.268G>A p.Asp90Asn missense_variant 3/18 -
ENST00000558518.1 c.268G>A p.Asp90Asn missense_variant 3/18 -
NM_000527.5 c.268G>A p.Asp90Asn missense_variant 3/18 -
NM_001195798.2 c.268G>A p.Asp90Asn missense_variant 3/18 -
NM_001195799.2 c.190+2396G>A - intron_variant - 2/16
NM_001195800.2 c.268G>A p.Asp90Asn missense_variant 3/16 -
NM_001195803.2 c.268G>A p.Asp90Asn missense_variant 3/16 -