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Details for WHRN:p.Ser11Arg

CHROMOSOME

9

GENOMIC COORDINATES

hg19	hg38
117267049	114504769

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

C

TRANSCRIPT

N.A.

CDNA CHANGE

None

PROTEIN CHANGE

p.Ser11Arg

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0006	0.0	0.0	0.0	0.003	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.001112	0.001422	0.001594	0.003715	0.0	0.0003954	0.001303	0.0003561	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Benign	3.072802	Disease causing

DBSNP ID

1 combination linked to WHRN:p.Ser11Arg

1 disease linked to WHRN:p.Ser11Arg

Usher syndrome type 2

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