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Details for BBS10:p.Ala296Thr

CHROMOSOME

12

GENOMIC COORDINATES

hg19	hg38
76740879	76347099

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

None

PROTEIN CHANGE

p.Ala296Thr

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0002	0.0	0.0	0.0	0.001	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.0003637	0.0002465	0.0001448	0.0	0.0	4.792e-05	0.0006877	0.0004907	0.0

ESP
AA	EA
0.000227	0.000814

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	1.503971	Polymorphism

DBSNP ID

1 combination linked to BBS10:p.Ala296Thr

1 disease linked to BBS10:p.Ala296Thr

Bardet-Biedl syndrome

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