Variant ID: 19-11223978-C-T

NM_000527.4(LDLR):c.1211C>T;(p.Thr404Ile)

This variant was identified in 4 publications



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

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: 1211C>T
PubMed Link: 26608663
Variant Present in the following documents:
  • srep17272-s1.doc
View BVdb publication page


The genetic spectrum of familial hypercholesterolemia in Pakistan.

Clinica Chimica Acta; International Journal Of Clinical Chemistry
W Ahmed, R Whittall, M Riaz, M Ajmal, A Sadeque, H Ayub, R Qamar, SE Humphries
Publication Date: 2013-06-05

Variant appearance in text: LDLR: T404I
PubMed Link: 23535506
Variant Present in the following documents:
  • Main text
View BVdb publication page


Nutraceutical pill containing berberine versus ezetimibe on plasma lipid pattern in hypercholesterolemic subjects and its additive effect in patients with familial hypercholesterolemia on stable cholesterol-lowering treatment.

Lipids In Health And Disease
L Pisciotta, A Bellocchio, S Bertolini
Publication Date: 2012-09-22

Variant appearance in text: LDLR: 1211C>T; T404I
PubMed Link: 22998978
Variant Present in the following documents:
  • 1476-511X-11-123-S1.docx
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: 1211C>T
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.1466C>T p.Thr489Ile missense_variant 9/18 -
ENST00000455727.2 c.707C>T p.Thr236Ile missense_variant 7/16 -
ENST00000535915.1 c.1088C>T p.Thr363Ile missense_variant 8/17 -
ENST00000545707.1 c.830C>T p.Thr277Ile missense_variant 8/16 -
ENST00000557933.1 c.1211C>T p.Thr404Ile missense_variant 9/18 -
ENST00000558013.1 c.1211C>T p.Thr404Ile missense_variant 9/18 -
ENST00000558518.1 c.1211C>T p.Thr404Ile missense_variant 9/18 -
ENST00000560173.1 n.210C>T - non_coding_transcript_exon_variant 3/3 -
ENST00000560467.1 c.692C>T p.Thr231Ile missense_variant 5/6 -
NM_000527.5 c.1211C>T p.Thr404Ile missense_variant 9/18 -
NM_001195798.2 c.1211C>T p.Thr404Ile missense_variant 9/18 -
NM_001195799.2 c.1088C>T p.Thr363Ile missense_variant 8/17 -
NM_001195800.2 c.707C>T p.Thr236Ile missense_variant 7/16 -
NM_001195803.2 c.830C>T p.Thr277Ile missense_variant 8/16 -