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Details for PKHD1:c.1675C>T, p.Arg559Trp

CHROMOSOME

6

GENOMIC COORDINATES

hg19	hg38
51921514	52056716

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

c.1675C>T

PROTEIN CHANGE

p.Arg559Trp

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.007	0.0	0.0	0.0337	0.0	0.001

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.001638	0.0	2.892e-05	0.0	0.02203	0.0	1.765e-05	0.0003264	3.267e-05

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	1.447735	Polymorphism

DBSNP ID

1 combination linked to PKHD1:c.1675C>T, p.Arg559Trp

1 disease linked to PKHD1:c.1675C>T, p.Arg559Trp

Autosomal recessive polycystic kidney disease

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