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Details for BBS12:c.1438del, p.Asp480MetfsTer3

CHROMOSOME

4

GENOMIC COORDINATES

hg19	hg38
123664483	122743328

VARIANT EFFECT

frameshift

ANNOTATION FLAG

manually_attributed

GENE

REFERENCE ALLELE

TG

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.1438del

PROTEIN CHANGE

p.Asp480MetfsTer3

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
3.977e-06	0.0	0.0	0.0	0.0	0.0	0.0	0.0	3.266e-05

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
None	None	2.20045	Disease causing

DBSNP ID

2 combinations linked to BBS12:c.1438del, p.Asp480MetfsTer3

OLI086; OLI1130

3 diseases linked to BBS12:c.1438del, p.Asp480MetfsTer3

Alström syndrome; McKusick-Kaufman syndrome; Bardet-Biedl syndrome

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