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Details for BBS4:c.341delT, p.Leu114TrpfsTer28

CHROMOSOME

15

GENOMIC COORDINATES

hg19	hg38
73009123	72716782

VARIANT EFFECT

frameshift

ANNOTATION FLAG

manually_attributed

GENE

REFERENCE ALLELE

CT

ALTERNATE ALLELE

C

TRANSCRIPT

CDNA CHANGE

c.341delT

PROTEIN CHANGE

p.Leu114TrpfsTer28

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
8.167e-06	0.0	0.0	0.0	0.0	0.0	1.804e-05	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
None	None	4.291479	Disease causing

DBSNP ID

2 combinations linked to BBS4:c.341delT, p.Leu114TrpfsTer28

OLI097; OLI1124

1 disease linked to BBS4:c.341delT, p.Leu114TrpfsTer28

Bardet-Biedl syndrome

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