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Details for BBS12:c.1198G>A, p.Val400Met

CHROMOSOME

4

GENOMIC COORDINATES

hg19	hg38
123664245	122743090

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.1198G>A

PROTEIN CHANGE

p.Val400Met

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
7.556e-05	0.0	0.0	0.0009923	5.437e-05	0.0	2.638e-05	0.0	0.0001633

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	-0.260143	Disease causing

DBSNP ID

1 combination linked to BBS12:c.1198G>A, p.Val400Met

1 disease linked to BBS12:c.1198G>A, p.Val400Met

Bardet-Biedl syndrome

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