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Details for MYO7A:p.Pro1220Leu

CHROMOSOME

11

GENOMIC COORDINATES

hg19	hg38
76901093	77190048

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

None

PROTEIN CHANGE

p.Pro1220Leu

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
7.924e-05	0.0	3.759e-05	0.0	7.816e-05	0.0	0.0001356	0.0002128	4.193e-05

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.652316	Disease causing

DBSNP ID

1 combination linked to MYO7A:p.Pro1220Leu

1 disease linked to MYO7A:p.Pro1220Leu

Usher syndrome type 2

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