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Details for KIF11:c.386A>C, p.Glu129Ala

CHROMOSOME

10

GENOMIC COORDINATES

hg19	hg38
94366993	92607236

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

A

ALTERNATE ALLELE

C

TRANSCRIPT

N.A.

CDNA CHANGE

c.386A>C

PROTEIN CHANGE

p.Glu129Ala

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
4.037e-06	0.0	0.0	0.0	0.0	0.0	8.936e-06	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Possibly Damaging	4.836797	Disease causing

DBSNP ID

1 combination linked to KIF11:c.386A>C, p.Glu129Ala

1 disease linked to KIF11:c.386A>C, p.Glu129Ala

Familial exudative vitreoretinopathy

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