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Details for MKKS:c.1232G>C, p.Gly411Ala

CHROMOSOME

20

GENOMIC COORDINATES

hg19	hg38
10388304	10407656

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

G

TRANSCRIPT

CDNA CHANGE

c.1232G>C

PROTEIN CHANGE

p.Gly411Ala

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
None	None	None	None	None	None	None	None	None

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.980029	Disease causing

DBSNP ID

1 combination linked to MKKS:c.1232G>C, p.Gly411Ala

1 disease linked to MKKS:c.1232G>C, p.Gly411Ala

Bardet-Biedl syndrome

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