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Details for HOGA1:c.845G>A, p.Arg282His

CHROMOSOME

10

GENOMIC COORDINATES

hg19	hg38
99371277	97611520

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

c.845G>A

PROTEIN CHANGE

p.Arg282His

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
7.997e-06	0.0	0.0	0.0	5.437e-05	0.0	8.898e-06	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Benign	2.775628	Polymorphism

DBSNP ID

1 combination linked to HOGA1:c.845G>A, p.Arg282His

1 disease linked to HOGA1:c.845G>A, p.Arg282His

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