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Details for PRKN:c.1096C>T, p.Arg366Trp

CHROMOSOME

6

GENOMIC COORDINATES

hg19	hg38
161807897	161386865

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.1096C>T

PROTEIN CHANGE

p.Arg366Trp

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0012	0.0	0.0	0.006	0.0	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.0002824	0.0001845	0.0	0.0	0.003208	0.0	5.275e-05	0.0001629	6.533e-05

ESP
AA	EA
0.0006809	0.0001163

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Possibly Damaging	4.245035	Disease causing

DBSNP ID

1 combination linked to PRKN:c.1096C>T, p.Arg366Trp

1 disease linked to PRKN:c.1096C>T, p.Arg366Trp

Parkinson disease

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