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Details for EYS:c.6410G>A, p.Arg2137His

CHROMOSOME

6

GENOMIC COORDINATES

hg19	hg38
64940499	64230606

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.6410G>A

PROTEIN CHANGE

p.Arg2137His

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0002	0.0	0.0	0.001	0.0	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
7.859e-05	0.0	0.0	0.0	0.0009184	0.0	1.705e-05	0.0002331	0.0

ESP
AA	EA
0.0	0.0003143

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	1.933203	Polymorphism

DBSNP ID

1 combination linked to EYS:c.6410G>A, p.Arg2137His

1 disease linked to EYS:c.6410G>A, p.Arg2137His

Retinitis pigmentosa

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