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Details for PKHD1:c.7942G>A, p.Gly2648Ser

CHROMOSOME

6

GENOMIC COORDINATES

hg19	hg38
51712738	51847940

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

c.7942G>A

PROTEIN CHANGE

p.Gly2648Ser

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0048	0.0	0.0231	0.0079	0.0	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.005648	0.0	0.03595	0.0	0.008428	0.0	0.0	0.003424	0.0

ESP
AA	EA
0.0	0.0001163

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Possibly Damaging	3.351263	Polymorphism

DBSNP ID

1 combination linked to PKHD1:c.7942G>A, p.Gly2648Ser

1 disease linked to PKHD1:c.7942G>A, p.Gly2648Ser

Autosomal recessive polycystic kidney disease

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