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Details for USH2A:c.7334C>T, p.Ser2445Phe

CHROMOSOME

1

GENOMIC COORDINATES

hg19	hg38
216074214	215900872

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.7334C>T

PROTEIN CHANGE

p.Ser2445Phe

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0008	0.0	0.0	0.0	0.0	0.0041

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.000841	0.0	8.682e-05	0.0	5.44e-05	0.0	7.063e-05	0.0003271	0.006435

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	4.452252	Disease causing

DBSNP ID

1 combination linked to USH2A:c.7334C>T, p.Ser2445Phe

1 disease linked to USH2A:c.7334C>T, p.Ser2445Phe

Bardet-Biedl syndrome

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