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Details for BBS1:c.46A>T, p.Ser16Cys

CHROMOSOME

11

GENOMIC COORDINATES

hg19	hg38
66278176	66510705

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

A

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.46A>T

PROTEIN CHANGE

p.Ser16Cys

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
3.99e-06	0.0	0.0	0.0	0.0	0.0	8.83e-06	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Possibly Damaging	5.502107	Disease causing

DBSNP ID

1 combination linked to BBS1:c.46A>T, p.Ser16Cys

1 disease linked to BBS1:c.46A>T, p.Ser16Cys

Bardet-Biedl syndrome

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