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Details for USH1G:c.28C>T, p.Arg10Trp

CHROMOSOME

17

GENOMIC COORDINATES

hg19	hg38
72919141	74923046

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.28C>T

PROTEIN CHANGE

p.Arg10Trp

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
0.0	0.0	0.0	0.0	0.0	0.0	0.0	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	4.00472	Disease causing

DBSNP ID

1 combination linked to USH1G:c.28C>T, p.Arg10Trp

1 disease linked to USH1G:c.28C>T, p.Arg10Trp

Usher syndrome type 1

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