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Details for BBS4:p.Met472Val

CHROMOSOME

15

GENOMIC COORDINATES

hg19	hg38
73029268	72736927

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

A

ALTERNATE ALLELE

G

TRANSCRIPT

N.A.

CDNA CHANGE

None

PROTEIN CHANGE

p.Met472Val

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0014	0.0	0.0	0.0069	0.0	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.0006725	0.0001846	0.0001445	0.0	0.007938	0.0	8.803e-05	0.0004891	6.533e-05

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	2.480398	Disease causing

DBSNP ID

2 combinations linked to BBS4:p.Met472Val

2 diseases linked to BBS4:p.Met472Val

Acrocallosal syndrome; Bardet-Biedl syndrome

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