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Details for HOGA1:c.812G>A, p.Arg271His

CHROMOSOME

10

GENOMIC COORDINATES

hg19	hg38
99361725	97601968

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

c.812G>A

PROTEIN CHANGE

p.Arg271His

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
2.033e-05	6.405e-05	0.0	0.0	0.0001102	0.0	0.0	0.0	6.64e-05

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	4.386515	Disease causing

DBSNP ID

1 combination linked to HOGA1:c.812G>A, p.Arg271His

1 disease linked to HOGA1:c.812G>A, p.Arg271His

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