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Details for MKS1:c.1318G>A, p.Gly440Ser

CHROMOSOME

17

GENOMIC COORDINATES

hg19	hg38
56284535	58207174

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.1318G>A

PROTEIN CHANGE

p.Gly440Ser

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
4.007e-06	0.0	0.0	0.0	0.0	0.0	8.828e-06	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	1.731988	Polymorphism

DBSNP ID

1 combination linked to MKS1:c.1318G>A, p.Gly440Ser

1 disease linked to MKS1:c.1318G>A, p.Gly440Ser

Bardet-Biedl syndrome

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