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Details for PRPH:c.1376G>A, p.Arg459His

CHROMOSOME

12

GENOMIC COORDINATES

hg19	hg38
49692099	49298316

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.1376G>A

PROTEIN CHANGE

p.Arg459His

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
7.959e-06	0.0	0.0	9.929e-05	0.0	0.0	8.799e-06	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	2.075604	Polymorphism

DBSNP ID

1 combination linked to PRPH:c.1376G>A, p.Arg459His

1 disease linked to PRPH:c.1376G>A, p.Arg459His

Amyotrophic lateral sclerosis

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