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Details for BBS4:p.Glu61Lys

CHROMOSOME

15

GENOMIC COORDINATES

hg19	hg38
73004609	72712268

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

None

PROTEIN CHANGE

p.Glu61Lys

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
None	None	None	None	None	None	None	None	None

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Benign	2.878731	None

DBSNP ID

2 combinations linked to BBS4:p.Glu61Lys

2 diseases linked to BBS4:p.Glu61Lys

Alström syndrome; Bardet-Biedl syndrome

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