Details for HNF1A:c.872dup, p.Gly292ArgfsTer25

CHROMOSOME 12
GENOMIC COORDINATES
hg19hg38
121432118120994315
VARIANT EFFECT frameshift
ANNOTATION FLAG manually_attributed
GENE HNF1A
REFERENCE ALLELE C
ALTERNATE ALLELE CC
TRANSCRIPT NM_001306179.2
CDNA CHANGE c.872dup
PROTEIN CHANGE p.Gly292ArgfsTer25
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNone4.066735Disease causing
DBSNP ID rs587776825
1 combination linked to HNF1A:c.872dup, p.Gly292ArgfsTer25 OLI203
1 disease linked to HNF1A:c.872dup, p.Gly292ArgfsTer25 MODY
Found any issues with the data on this page? Report this entry.