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Details for BBS10:c.563A>C, p.Lys188Thr

CHROMOSOME

12

GENOMIC COORDINATES

hg19	hg38
76741202	76347422

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

T

ALTERNATE ALLELE

G

TRANSCRIPT

CDNA CHANGE

c.563A>C

PROTEIN CHANGE

p.Lys188Thr

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
None	None	None	None	None	None	None	None	None

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	1.200191	Polymorphism

DBSNP ID

1 combination linked to BBS10:c.563A>C, p.Lys188Thr

1 disease linked to BBS10:c.563A>C, p.Lys188Thr

Bardet-Biedl syndrome

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