Variant #0000000556 (NC_000020.10:g.43043159G>A, NM_175914.4:c.439G>A (HNF4A))

Chromosome 20
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Probably affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.43043159G>A
Reference -
DB-ID HNF4A_000006
Frequency -
Average frequency (gnomAD v.2.1.1) 0.00208 View details
Owner Florian Bayersdorfer
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Florian Bayersdorfer
Date created 2024-05-07 14:07:33 +00:00 (UTC)
Date last edited N/A
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
HNF4A NM_175914.4 +?/+? 5 c.439G>A r.(?) p.(Val147Ile)