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Details for BBS10:c.1249G>A, p.Ala417Thr

CHROMOSOME

12

GENOMIC COORDINATES

hg19	hg38
76740516	76346736

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

c.1249G>A

PROTEIN CHANGE

p.Ala417Thr

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
Deleterious	Damaging	3.785303	Disease causing

DBSNP ID

3 combinations linked to BBS10:c.1249G>A, p.Ala417Thr

OLI1669; OLI1670; OLI1671

1 disease linked to BBS10:c.1249G>A, p.Ala417Thr

Bardet-Biedl syndrome

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