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Details for BBS4:c.1236A>T, p.Glu412Asp

CHROMOSOME

15

GENOMIC COORDINATES

hg19	hg38
73028295	72735954

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

A

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

c.1236A>T

PROTEIN CHANGE

p.Glu412Asp

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0022	0.0	0.0	0.0	0.001	0.0102

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.001659	0.000123	0.001041	0.0001984	0.0	9.239e-05	0.001231	0.002608	0.007153

ESP
AA	EA
0.0002275	0.001396

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	1.204727	Polymorphism

DBSNP ID

1 combination linked to BBS4:c.1236A>T, p.Glu412Asp

1 disease linked to BBS4:c.1236A>T, p.Glu412Asp

Bardet-Biedl syndrome

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