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Details for MKKS:c.1462G>A, p.Ala488Thr

CHROMOSOME

20

GENOMIC COORDINATES

hg19	hg38
10386146	10405498

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.1462G>A

PROTEIN CHANGE

p.Ala488Thr

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0108	0.0393	0.0029	0.0	0.0	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.002804	0.04011	0.001244	0.0	0.0	0.0	5.276e-05	0.0004889	3.266e-05

ESP
AA	EA
0.03768	0.0001163

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	0.686827	Polymorphism

DBSNP ID

1 combination linked to MKKS:c.1462G>A, p.Ala488Thr

1 disease linked to MKKS:c.1462G>A, p.Ala488Thr

Bardet-Biedl syndrome

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