Variant ID: 19-11227645-G-A

NM_000527.4(LDLR):c.1816G>A;(p.Ala606Thr)

This variant was identified in 4 publications




Publications:


Familial Hypercholesterolemia in Asia Pacific: A Review of Epidemiology, Diagnosis, and Management in the Region.

Journal Of Atherosclerosis And Thrombosis
S Kalra, Z Chen, C Deerochanawong, KG Shyu, RS Tan, B Tomlinson, HI Yeh
Publication Date: 2021-03-19

Variant appearance in text: LDLR: A606T
PubMed Link: 33746137
Variant Present in the following documents:
  • Main text
View BVdb publication page



Current Status of Familial Hypercholesterolemia in China: A Need for Patient FH Registry Systems.

Frontiers In Physiology
P Chen, X Chen, S Zhang
Publication Date: 2019

Variant appearance in text: LDLR: A606T
PubMed Link: 30949068
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetically confirmed familial hypercholesterolemia in outpatients with hypercholesterolemia.

Journal Of Geriatric Cardiology : Jgc
X Wang, L Jiang, LY Sun, Y Wu, WH Wen, XF Wang, W Liu, YJ Zhou, LY Wang
Publication Date: 2018-06

Variant appearance in text: LDLR: A606T
PubMed Link: 30108616
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: A606T
PubMed Link: 26608663
Variant Present in the following documents:
  • srep17272-s1.doc
  • Main text
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000252444.5 c.2071G>A p.Ala691Thr missense_variant 12/18 -
ENST00000455727.2 c.1312G>A p.Ala438Thr missense_variant 10/16 -
ENST00000535915.1 c.1693G>A p.Ala565Thr missense_variant 11/17 -
ENST00000545707.1 c.1435G>A p.Ala479Thr missense_variant 11/16 -
ENST00000557933.1 c.1816G>A p.Ala606Thr missense_variant 12/18 -
ENST00000558013.1 c.1816G>A p.Ala606Thr missense_variant 12/18 -
ENST00000558518.1 c.1816G>A p.Ala606Thr missense_variant 12/18 -
ENST00000559340.1 c.426+757G>A - intron_variant,NMD_transcript_variant - 3/4
NM_000527.5 c.1816G>A p.Ala606Thr missense_variant 12/18 -
NM_001195798.2 c.1816G>A p.Ala606Thr missense_variant 12/18 -
NM_001195799.2 c.1693G>A p.Ala565Thr missense_variant 11/17 -
NM_001195800.2 c.1312G>A p.Ala438Thr missense_variant 10/16 -
NM_001195803.2 c.1435G>A p.Ala479Thr missense_variant 11/16 -