Bibliome.ai browser hg19
Search
About
Stats
FAQ
FH c.660A>G ;(p.A220=)
Variant ID: 1-241671981-T-C
NM_000143.3(
FH
):c.660A>G;(p.A220=)
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:
Mutations in hepatocyte nuclear factor-1beta and their related phenotypes.
Journal Of Medical Genetics
Edghill, E L EL; Bingham, C C; Ellard, S S; Hattersley, A T AT
Publication Date: 2006-01
Variant appearance in text: FH: 660A>G
PubMed Link:
15930087
Variant Present in the following documents:
Main text
View BVdb publication page