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Details for MYO7A:p.Lys268Arg

CHROMOSOME

11

GENOMIC COORDINATES

hg19	hg38
76868392	77157346

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

A

ALTERNATE ALLELE

G

TRANSCRIPT

N.A.

CDNA CHANGE

None

PROTEIN CHANGE

p.Lys268Arg

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0006	0.0	0.0014	0.0	0.002	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.0009486	0.0001338	0.0006144	0.0006012	0.0	0.0001404	0.001769	0.0006682	0.0

ESP
AA	EA
0.000512	0.001569

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	1.882964	Polymorphism

DBSNP ID

1 combination linked to MYO7A:p.Lys268Arg

1 disease linked to MYO7A:p.Lys268Arg

Usher syndrome type 2

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