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Details for MKKS:c.1015A>G, p.Ile339Val

CHROMOSOME

20

GENOMIC COORDINATES

hg19	hg38
10389422	10408774

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

T

ALTERNATE ALLELE

C

TRANSCRIPT

CDNA CHANGE

c.1015A>G

PROTEIN CHANGE

p.Ile339Val

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0022	0.0	0.0043	0.0	0.004	0.0041

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.004218	0.0001231	0.002604	0.002781	0.0	0.006937	0.00504	0.006213	0.005852

ESP
AA	EA
0.0	0.004535

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	-0.072919	Polymorphism

DBSNP ID

1 combination linked to MKKS:c.1015A>G, p.Ile339Val

1 disease linked to MKKS:c.1015A>G, p.Ile339Val

Bardet-Biedl syndrome

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