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Details for MKKS:c.1034G>A, p.Gly345Glu

CHROMOSOME

20

GENOMIC COORDINATES

hg19	hg38
10389403	10408755

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.1034G>A

PROTEIN CHANGE

p.Gly345Glu

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
None	None	None	None	None	None

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
1.194e-05	0.0	0.0	0.0	0.0	0.0	8.806e-06	0.0	6.536e-05

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.972146	Disease causing

DBSNP ID

1 combination linked to MKKS:c.1034G>A, p.Gly345Glu

1 disease linked to MKKS:c.1034G>A, p.Gly345Glu

Bardet-Biedl syndrome

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