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Details for BBS2:c.565C>T, p.Arg189Ter

CHROMOSOME

16

GENOMIC COORDINATES

hg19	hg38
56543916	56510004

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.565C>T

PROTEIN CHANGE

p.Arg189Ter

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
7.958e-06	0.0	0.0	0.0	5.437e-05	0.0	8.802e-06	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
None	None	6.520153	Disease causing

DBSNP ID

2 combinations linked to BBS2:c.565C>T, p.Arg189Ter

OLI1446; OLI1447

1 disease linked to BBS2:c.565C>T, p.Arg189Ter

Bardet-Biedl syndrome

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