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Details for BBS2:c.814C>T, p.Arg272Ter

CHROMOSOME

16

GENOMIC COORDINATES

hg19	hg38
56536711	56502799

VARIANT EFFECT

nonsense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.814C>T

PROTEIN CHANGE

p.Arg272Ter

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
1.592e-05	0.0	0.0	9.929e-05	0.0	0.0	2.64e-05	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
None	None	7.391642	Disease causing

DBSNP ID

1 combination linked to BBS2:c.814C>T, p.Arg272Ter

1 disease linked to BBS2:c.814C>T, p.Arg272Ter

Bardet-Biedl syndrome

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