View genomic variant #0000000036

Chromosome 12
Allele Unknown
Affects function (reported) Not classified
Affects function (concluded) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.121435388_121435391dupAGCC
Reference -
DB-ID HNF1A_000001
Frequency -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Sabine Heber




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
HNF1A NM_000545.5 ./+ 7 c.1421_1424dupAGCC r.(?) p.(Leu476Alafs*74)