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Details for BBS12:c.1574G>A, p.Arg525His

CHROMOSOME

4

GENOMIC COORDINATES

hg19	hg38
123664621	122743466

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.1574G>A

PROTEIN CHANGE

p.Arg525His

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
1.193e-05	0.0	0.0	0.0	0.0	0.0	2.638e-05	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Benign	2.842934	Disease causing

DBSNP ID

1 combination linked to BBS12:c.1574G>A, p.Arg525His

1 disease linked to BBS12:c.1574G>A, p.Arg525His

Bardet-Biedl syndrome

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