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Details for MYO7A:c.2617C>T, p.Arg873Trp

CHROMOSOME

11

GENOMIC COORDINATES

hg19	hg38
76891450	77180404

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

c.2617C>T

PROTEIN CHANGE

p.Arg873Trp

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0004	0.0	0.0	0.0	0.002	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.001021	0.0001993	0.0	0.0	5.583e-05	0.002207	0.001757	0.0008356	0.0

ESP
AA	EA
0.0007346	0.0007186

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Damaging	3.437638	Disease causing

DBSNP ID

1 combination linked to MYO7A:c.2617C>T, p.Arg873Trp

2 diseases linked to MYO7A:c.2617C>T, p.Arg873Trp

Meniere Disease; Atypical hemolytic uremic syndrome

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