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Details for PRKN:p.Lys32Thr

CHROMOSOME

6

GENOMIC COORDINATES

hg19	hg38
162864418	162443386

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

T

ALTERNATE ALLELE

G

TRANSCRIPT

N.A.

CDNA CHANGE

None

PROTEIN CHANGE

p.Lys32Thr

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
3.978e-06	0.0	0.0	0.0	0.0	0.0	8.798e-06	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Possibly Damaging	2.567124	Disease causing

DBSNP ID

3 combinations linked to PRKN:p.Lys32Thr

OLI1310; OLI1311; OLI1312

2 diseases linked to PRKN:p.Lys32Thr

NON RARE IN EUROPE: Alzheimer disease; Frontotemporal dementia

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