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Details for BBS4:None, p.Thr488Lys

CHROMOSOME

15

GENOMIC COORDINATES

hg19	hg38
73029831	72737490

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

None

PROTEIN CHANGE

p.Thr488Lys

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0006	0.0	0.0	0.0	0.0	0.0031

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.0005192	0.0	2.923e-05	0.0	0.0	0.0	8.881e-06	0.0001646	0.004209

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	1.39646	Polymorphism

DBSNP ID

1 combination linked to BBS4:None, p.Thr488Lys

3 diseases linked to BBS4:None, p.Thr488Lys

Alström syndrome; McKusick-Kaufman syndrome; Bardet-Biedl syndrome

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