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Details for PKD1:c.4343C>T, p.Ser1448Phe

CHROMOSOME

16

GENOMIC COORDINATES

hg19	hg38
2160825	2110824

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

c.4343C>T

PROTEIN CHANGE

p.Ser1448Phe

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0002	0.0	0.0	0.001	0.0	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
7.21e-05	0.0	0.0	0.0	0.0009251	0.0	8.909e-06	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	0.830801	Polymorphism

DBSNP ID

1 combination linked to PKD1:c.4343C>T, p.Ser1448Phe

1 disease linked to PKD1:c.4343C>T, p.Ser1448Phe

Autosomal recessive polycystic kidney disease

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