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Details for BBS9:p.Leu665Phe

CHROMOSOME

7

GENOMIC COORDINATES

hg19	hg38
33427634	33388022

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

None

PROTEIN CHANGE

p.Leu665Phe

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0048	0.0174	0.0	0.0	0.001	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.0009426	0.012	0.0009252	0.0	0.0	0.0	4.396e-05	0.0008159	0.0

ESP
AA	EA
0.009532	0.0

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.498243	Polymorphism

DBSNP ID

2 combinations linked to BBS9:p.Leu665Phe

3 diseases linked to BBS9:p.Leu665Phe

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

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