Bibliome.ai browser hg19
Search
About
Stats
FAQ
PNPLA5 c.285C>G ;(p.H95Q)
Variant ID: 22-44287083-G-C
NM_138814.3(
PNPLA5
):c.285C>G;(p.H95Q)
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:
Genes Potentially Associated with Familial Hypercholesterolemia.
Biomolecules
Mikhailova, Svetlana S; Ivanoshchuk, Dinara D; Timoshchenko, Olga O; Shakhtshneider, Elena E
Publication Date: 2019-11-29
Variant appearance in text: PNPLA5: His95Gln; rs377273512
PubMed Link:
31795497
Variant Present in the following documents:
Main text
biomolecules-09-00807.pdf
View BVdb publication page