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Details for PKHD1:p.Cys3346Arg

CHROMOSOME

6

GENOMIC COORDINATES

hg19	hg38
51609303	51744505

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

A

ALTERNATE ALLELE

G

TRANSCRIPT

N.A.

CDNA CHANGE

None

PROTEIN CHANGE

p.Cys3346Arg

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
0.0003304	0.0	0.0004926	0.001092	0.0	0.0	0.0003081	0.0008162	0.00049

ESP
AA	EA
0.0	0.0003488

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.363771	Disease causing

DBSNP ID

1 combination linked to PKHD1:p.Cys3346Arg

1 disease linked to PKHD1:p.Cys3346Arg

Meckel syndrome

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