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Details for BBS9:p.Thr549Ile

CHROMOSOME

7

GENOMIC COORDINATES

hg19	hg38
33397560	33357948

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

None

PROTEIN CHANGE

p.Thr549Ile

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0104	0.0386	0.0014	0.0	0.0	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.002526	0.03383	0.001911	0.0	0.0	0.0	4.409e-05	0.001796	9.808e-05

ESP
AA	EA
0.02951	0.0002326

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.267184	Polymorphism

DBSNP ID

2 combinations linked to BBS9:p.Thr549Ile

OLI087; OLI1131

3 diseases linked to BBS9:p.Thr549Ile

Alström syndrome; McKusick-Kaufman syndrome; Bardet-Biedl syndrome

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