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Details for HNF1A:c.872C>G, p.Pro291Arg

CHROMOSOME

12

GENOMIC COORDINATES

hg19	hg38
121432125	120994322

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

G

TRANSCRIPT

CDNA CHANGE

c.872C>G

PROTEIN CHANGE

p.Pro291Arg

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
None	None	None	None	None	None

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
2.092e-05	0.0002758	0.0	0.0	0.0	0.0	9.264e-06	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	1.180689	Disease causing

DBSNP ID

1 combination linked to HNF1A:c.872C>G, p.Pro291Arg

1 disease linked to HNF1A:c.872C>G, p.Pro291Arg

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