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Details for BBS12:p.Val400Met

CHROMOSOME

4

GENOMIC COORDINATES

hg19	hg38
123664245	122743090

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

None

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:p.Val400Met

3 diseases linked to BBS12:p.Val400Met

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

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