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Details for PKD1:p.Ser123Thr

CHROMOSOME

16

GENOMIC COORDINATES

hg19	hg38
2168838	2118837

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

G

TRANSCRIPT

N.A.

CDNA CHANGE

None

PROTEIN CHANGE

p.Ser123Thr

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
1.982e-05	0.0	0.0	0.0	0.0	0.0	4.147e-05	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Possibly Damaging	2.277945	Disease causing

DBSNP ID

2 combinations linked to PKD1:p.Ser123Thr

1 disease linked to PKD1:p.Ser123Thr

Autosomal dominant polycystic kidney disease

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