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Details for USH2A:c.997T>C,

CHROMOSOME

1

GENOMIC COORDINATES

hg19	hg38
216498793	216325451

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

A

ALTERNATE ALLELE

G

TRANSCRIPT

N.A.

CDNA CHANGE

c.997T>C

PROTEIN CHANGE

None

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0002	0.0	0.0	0.001	0.0	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.0001395	0.0	0.0	0.0	0.001745	0.0	0.0	0.0	9.799e-05

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Possibly Damaging	1.482054	Disease causing

DBSNP ID

1 combination linked to USH2A:c.997T>C,

1 disease linked to USH2A:c.997T>C,

Rare genetic deafness

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