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Details for BBS12:c.2023C>T, p.Arg675Ter

CHROMOSOME

4

GENOMIC COORDINATES

hg19	hg38
123665070	122743915

VARIANT EFFECT

nonsense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.2023C>T

PROTEIN CHANGE

p.Arg675Ter

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
8.12e-06	0.0	0.0	0.0	0.0	0.0	1.785e-05	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
None	None	7.919979	Disease causing

DBSNP ID

1 combination linked to BBS12:c.2023C>T, p.Arg675Ter

1 disease linked to BBS12:c.2023C>T, p.Arg675Ter

Bardet-Biedl syndrome

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