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Details for BBS12:c.1619G>A, p.Gly540Asp

CHROMOSOME

4

GENOMIC COORDINATES

hg19	hg38
123664666	122743511

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.1619G>A

PROTEIN CHANGE

p.Gly540Asp

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
0.0	0.0	0.0	0.0	0.0	0.0	0.0	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	4.075331	Disease causing

DBSNP ID

1 combination linked to BBS12:c.1619G>A, p.Gly540Asp

1 disease linked to BBS12:c.1619G>A, p.Gly540Asp

Bardet-Biedl syndrome

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