View genomic variant #0000000075

Chromosome 12
Allele Parent #1
Affects function (reported) Probably affects function
Affects function (concluded) Probably affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.121438921_121438928delAGCCACCT
Reference -
DB-ID HNF1A_000003
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 +?/+? 10 c.1822_1829delAGCCACCT r.(?) p.(Ser608Alafs*38)