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Details for HAMP:c.212G>A, p.Gly71Asp

CHROMOSOME

19

GENOMIC COORDINATES

hg19	hg38
35775902	35284999

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.212G>A

PROTEIN CHANGE

p.Gly71Asp

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0004	0.0008	0.0	0.0	0.001	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.001678	0.0004921	8.673e-05	0.005556	0.0	0.0001848	0.003015	0.00114	3.266e-05

ESP
AA	EA
0.0004539	0.002791

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	-0.120119	Polymorphism

DBSNP ID

1 combination linked to HAMP:c.212G>A, p.Gly71Asp

1 disease linked to HAMP:c.212G>A, p.Gly71Asp

Rare hereditary hemochromatosis

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