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Details for BBS9:c.1063C>T, p.Gln355Ter

CHROMOSOME

7

GENOMIC COORDINATES

hg19	hg38
33376099	33336487

VARIANT EFFECT

nonsense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.1063C>T

PROTEIN CHANGE

p.Gln355Ter

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
None	None	8.050574	Disease causing

DBSNP ID

1 combination linked to BBS9:c.1063C>T, p.Gln355Ter

1 disease linked to BBS9:c.1063C>T, p.Gln355Ter

Bardet-Biedl syndrome

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