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Details for MYO7A:c.1133G>A, p.Arg378His

CHROMOSOME

11

GENOMIC COORDINATES

hg19	hg38
76871261	77160215

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.1133G>A

PROTEIN CHANGE

p.Arg378His

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
5.101e-06	0.0	0.0	0.0	7.009e-05	0.0	0.0	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	3.648128	Disease causing

DBSNP ID

1 combination linked to MYO7A:c.1133G>A, p.Arg378His

1 disease linked to MYO7A:c.1133G>A, p.Arg378His

46,XY disorder of sex development

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