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Details for BBS4:c.137A>G, p.Lys46Arg

CHROMOSOME

15

GENOMIC COORDINATES

hg19	hg38
73002101	72709760

VARIANT EFFECT

missense

ANNOTATION FLAG

manually_corrected

GENE

REFERENCE ALLELE

A

ALTERNATE ALLELE

G

TRANSCRIPT

CDNA CHANGE

c.137A>G

PROTEIN CHANGE

p.Lys46Arg

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0032	0.0008	0.0058	0.0	0.0109	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.006868	0.001169	0.007227	0.01082	0.0	0.003249	0.01032	0.008969	0.001633

ESP
AA	EA
0.0009099	0.01024

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	2.588566	Polymorphism

DBSNP ID

4 combinations linked to BBS4:c.137A>G, p.Lys46Arg

OLI1116; OLI1146; OLI125; OLI620

1 disease linked to BBS4:c.137A>G, p.Lys46Arg

Bardet-Biedl syndrome

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