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Details for BBS1:p.Tyr113Ter

CHROMOSOME

11

GENOMIC COORDINATES

hg19	hg38
66282056	66514585

VARIANT EFFECT

nonsense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

T

ALTERNATE ALLELE

G

TRANSCRIPT

N.A.

CDNA CHANGE

None

PROTEIN CHANGE

p.Tyr113Ter

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
None	None	None	None	None	None	None	None	None

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Benign	4.989986	Disease causing

DBSNP ID

1 combination linked to BBS1:p.Tyr113Ter

1 disease linked to BBS1:p.Tyr113Ter

Retinitis pigmentosa

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