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Details for BBS4:c.1091C>A, p.Ala364Glu

CHROMOSOME

15

GENOMIC COORDINATES

hg19	hg38
73027508	72735167

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.1091C>A

PROTEIN CHANGE

p.Ala364Glu

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	Damaging	4.073944	Disease causing

DBSNP ID

2 combinations linked to BBS4:c.1091C>A, p.Ala364Glu

OLI1229; OLI325

1 disease linked to BBS4:c.1091C>A, p.Ala364Glu

Bardet-Biedl syndrome

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