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Details for USH1G:c.1162G>T, p.Glu388Ter

CHROMOSOME

17

GENOMIC COORDINATES

hg19	hg38
72915769	74919674

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

c.1162G>T

PROTEIN CHANGE

p.Glu388Ter

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
8.047e-06	0.0	0.0	0.0	0.0	0.0	1.795e-05	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
None	None	7.474572	Disease causing

DBSNP ID

1 combination linked to USH1G:c.1162G>T, p.Glu388Ter

1 disease linked to USH1G:c.1162G>T, p.Glu388Ter

Non-syndromic genetic deafness

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