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Details for USH2A:p.Thr4439Ile

CHROMOSOME

1

GENOMIC COORDINATES

hg19	hg38
215847937	215674595

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

None

PROTEIN CHANGE

p.Thr4439Ile

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
1.196e-05	0.0	0.0	0.0	0.0	0.0	2.651e-05	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.611394	Disease causing

DBSNP ID

1 combination linked to USH2A:p.Thr4439Ile

1 disease linked to USH2A:p.Thr4439Ile

Usher syndrome type 2

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