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Details for MYO7A:c.1007G>A, p.Arg336His

CHROMOSOME

11

GENOMIC COORDINATES

hg19	hg38
76870496	77159450

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

c.1007G>A

PROTEIN CHANGE

p.Arg336His

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0012	0.0008	0.0	0.0	0.005	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.001164	0.0007127	0.0006096	9.96e-05	0.0	0.0	0.002212	0.00083	3.271e-05

ESP
AA	EA
0.0005079	0.001927

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Damaging	3.19649	Polymorphism

DBSNP ID

1 combination linked to MYO7A:c.1007G>A, p.Arg336His

2 diseases linked to MYO7A:c.1007G>A, p.Arg336His

Meniere Disease; Atypical hemolytic uremic syndrome

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