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Details for BBS2:p.Leu349Trp

CHROMOSOME

16

GENOMIC COORDINATES

hg19	hg38
56536263	56502351

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

A

ALTERNATE ALLELE

C

TRANSCRIPT

N.A.

CDNA CHANGE

None

PROTEIN CHANGE

p.Leu349Trp

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
1.591e-05	0.0	0.0	0.0	0.0	0.0	3.518e-05	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	4.093333	Disease causing

DBSNP ID

1 combination linked to BBS2:p.Leu349Trp

1 disease linked to BBS2:p.Leu349Trp

Bardet-Biedl syndrome

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