Variant ID: 2-21260868-G-A

NM_000384.2(APOB):c.499C>T;(p.Pro167Ser)

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:

Systematic analysis of variants related to familial hypercholesterolemia in families with premature myocardial infarction.

European Journal Of Human Genetics : Ejhg
I Brænne, M Kleinecke, B Reiz, E Graf, T Strom, T Wieland, M Fischer, T Kessler, C Hengstenberg, T Meitinger, J Erdmann, H Schunkert
Publication Date: 2016-02

Variant appearance in text: APOB: 499C>T; P167S
PubMed Link: 26036859
Variant Present in the following documents:
  • Main text
View BVdb publication page


Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000233242.1 c.499C>T p.Pro167Ser missense_variant 5/29 -
ENST00000399256.4 c.499C>T p.Pro167Ser missense_variant 5/17 -
NM_000384.3 c.499C>T p.Pro167Ser missense_variant 5/29 -