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Details for BBS1:c.734C>T, p.Pro245Leu

CHROMOSOME

11

GENOMIC COORDINATES

hg19	hg38
66288751	66521280

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

c.734C>T

PROTEIN CHANGE

p.Pro245Leu

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0004	0.0015	0.0	0.0	0.0	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
7.158e-05	0.001046	2.891e-05	0.0	0.0	0.0	0.0	0.0	0.0

ESP
AA	EA
0.0009091	0.0

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Benign	3.509619	Disease causing

DBSNP ID

1 combination linked to BBS1:c.734C>T, p.Pro245Leu

1 disease linked to BBS1:c.734C>T, p.Pro245Leu

Bardet-Biedl syndrome

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