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Details for BBS2:c.646C>T, p.Arg216Ter

CHROMOSOME

16

GENOMIC COORDINATES

hg19	hg38
56540103	56506191

VARIANT EFFECT

nonsense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.646C>T

PROTEIN CHANGE

p.Arg216Ter

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
1.194e-05	0.0	0.0	0.0	5.437e-05	0.0	1.761e-05	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
None	None	7.08939	Disease causing

DBSNP ID

4 combinations linked to BBS2:c.646C>T, p.Arg216Ter

OLI041; OLI170; OLI171; OLI226

1 disease linked to BBS2:c.646C>T, p.Arg216Ter

Bardet-Biedl syndrome

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