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Details for MKKS:c.748G>A, p.Gly250Arg

CHROMOSOME

20

GENOMIC COORDINATES

hg19	hg38
10393415	10412767

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.748G>A

PROTEIN CHANGE

p.Gly250Arg

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
1.593e-05	0.0	0.0	0.0	0.0	0.0	8.82e-06	0.0	9.799e-05

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	4.191725	Disease causing

DBSNP ID

1 combination linked to MKKS:c.748G>A, p.Gly250Arg

1 disease linked to MKKS:c.748G>A, p.Gly250Arg

Bardet-Biedl syndrome

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