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APOB c.5159G>C ;(p.G1720A)
Variant ID: 2-21234581-C-G
NM_000384.2(
APOB
):c.5159G>C;(p.G1720A)
This variant was identified in 1 publication
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Phenotypic Variability in Atherosclerosis Burden in an Old-Order Amish Family With Homozygous Sitosterolemia.
Jacc. Case Reports
Peterson, Amy L AL; DeLine, James J; Korcarz, Claudia E CE; Dodge, Ann M AM; Stein, James H JH
Publication Date: 2020-04
Variant appearance in text: APOB: G1720A
PubMed Link:
34317312
Variant Present in the following documents:
Main text
main.pdf
View BVdb publication page