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Details for MKKS:c.7C>T, p.Arg3Cys

CHROMOSOME

20

GENOMIC COORDINATES

hg19	hg38
10394156	10413508

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.7C>T

PROTEIN CHANGE

p.Arg3Cys

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
9.577e-05	0.0	0.0001446	0.0	0.0001087	0.0	0.0001062	0.0	0.0001633

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Benign	3.164425	Disease causing

DBSNP ID

1 combination linked to MKKS:c.7C>T, p.Arg3Cys

1 disease linked to MKKS:c.7C>T, p.Arg3Cys

Bardet-Biedl syndrome

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