Variant ID: 19-11226838-AT-A

NM_000527.4(LDLR):c.1655del;(p.Ile552Thrfs*5)

This variant was identified in 1 publication



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

Publications:

Coronary Artery Plaque Regression by a PCSK9 Antibody and Rosuvastatin in Double-heterozygous Familial Hypercholesterolemia with an LDL Receptor Mutation and a PCSK9 V4I Mutation.

Internal Medicine (Tokyo, Japan)
R Shirahama, T Ono, S Nagamatsu, D Sueta, S Takashio, T Chitose, K Fujisue, K Sakamoto, E Yamamoto, Y Izumiya, K Kaikita, S Hokimoto, M Hori, M Harada-Shiba, I Kajiwara, H Ogawa, K Tsujita
Publication Date: 2018

Variant appearance in text: LDLR: 1655delT
PubMed Link: 30555118
Variant Present in the following documents:
  • Main text
View BVdb publication page


Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000252444.5 c.1910del p.Tyr638Thrfs*4 frameshift_variant 11/18 -
ENST00000455727.2 c.1152del p.Tyr385Thrfs*4 frameshift_variant 9/16 -
ENST00000535915.1 c.1533del p.Tyr512Thrfs*4 frameshift_variant 10/17 -
ENST00000545707.1 c.1275del p.Tyr426Thrfs*4 frameshift_variant 10/16 -
ENST00000557933.1 c.1656del p.Tyr553Thrfs*4 frameshift_variant 11/18 -
ENST00000558013.1 c.1656del p.Tyr553Thrfs*4 frameshift_variant 11/18 -
ENST00000558518.1 c.1656del p.Tyr553Thrfs*4 frameshift_variant 11/18 -
ENST00000559340.1 c.377del p.Tyr127Thrfs*4 frameshift_variant,NMD_transcript_variant 3/5 -
NM_000527.5 c.1656del p.Tyr553Thrfs*4 frameshift_variant 11/18 -
NM_001195798.2 c.1656del p.Tyr553Thrfs*4 frameshift_variant 11/18 -
NM_001195799.2 c.1533del p.Tyr512Thrfs*4 frameshift_variant 10/17 -
NM_001195800.2 c.1152del p.Tyr385Thrfs*4 frameshift_variant 9/16 -
NM_001195803.2 c.1275del p.Tyr426Thrfs*4 frameshift_variant 10/16 -