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Details for BBS10:c.145C>T, p.Arg49Trp

CHROMOSOME

12

GENOMIC COORDINATES

hg19	hg38
76741994	76348214

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.145C>T

PROTEIN CHANGE

p.Arg49Trp

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
4.841e-05	0.0	0.0	0.0	0.0	0.0	9.843e-05	0.0001652	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	4.329283	Disease causing

DBSNP ID

2 combinations linked to BBS10:c.145C>T, p.Arg49Trp

1 disease linked to BBS10:c.145C>T, p.Arg49Trp

Bardet-Biedl syndrome

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