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Details for BBS10:p.Ala636Val

CHROMOSOME

12

GENOMIC COORDINATES

hg19	hg38
76739858	76346078

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

None

PROTEIN CHANGE

p.Ala636Val

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	2.823092	Disease causing

DBSNP ID

1 combination linked to BBS10:p.Ala636Val

1 disease linked to BBS10:p.Ala636Val

Bardet-Biedl syndrome

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