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Details for BBS7:c.878A>C, p.Gln293Pro

CHROMOSOME

4

GENOMIC COORDINATES

hg19	hg38
122770055	121848900

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

T

ALTERNATE ALLELE

G

TRANSCRIPT

CDNA CHANGE

c.878A>C

PROTEIN CHANGE

p.Gln293Pro

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
3.981e-06	6.152e-05	0.0	0.0	0.0	0.0	0.0	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Possibly Damaging	3.25974	Disease causing

DBSNP ID

1 combination linked to BBS7:c.878A>C, p.Gln293Pro

1 disease linked to BBS7:c.878A>C, p.Gln293Pro

Bardet-Biedl syndrome

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