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Details for BBS10:c.1333C>A, p.Leu445Ile

CHROMOSOME

12

GENOMIC COORDINATES

hg19	hg38
76740432	76346652

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.1333C>A

PROTEIN CHANGE

p.Leu445Ile

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
0.0001672	0.0	0.0	0.003573	0.0	0.0	5.281e-05	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	-0.23555	Polymorphism

DBSNP ID

1 combination linked to BBS10:c.1333C>A, p.Leu445Ile

1 disease linked to BBS10:c.1333C>A, p.Leu445Ile

Bardet-Biedl syndrome

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