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Details for MYO7A:c.6070C>T, p.Arg2024Ter

CHROMOSOME

11

GENOMIC COORDINATES

hg19	hg38
76922215	77211170

VARIANT EFFECT

nonsense

ANNOTATION FLAG

manually_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

ENST00000409709.9

CDNA CHANGE

c.6070C>T

PROTEIN CHANGE

p.Arg2024Ter

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
None	None	None	None	None	None	None	None	None

ESP
AA	EA
None	0.0

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
None	None	9.598337	Disease causing

DBSNP ID

1 combination linked to MYO7A:c.6070C>T, p.Arg2024Ter

1 disease linked to MYO7A:c.6070C>T, p.Arg2024Ter

Usher syndrome type 1

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