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Details for PDE6B:c.292C>T, p.Arg98Cys

CHROMOSOME

4

GENOMIC COORDINATES

hg19	hg38
619707	625918

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.292C>T

PROTEIN CHANGE

p.Arg98Cys

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
0.0001997	0.0001533	0.0001261	0.0	0.0	0.0	0.0003814	0.0001814	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	4.129481	Disease causing

DBSNP ID

1 combination linked to PDE6B:c.292C>T, p.Arg98Cys

1 disease linked to PDE6B:c.292C>T, p.Arg98Cys

Bardet-Biedl syndrome

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