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Details for KIF11:c.1578C>A, p.His526Gln

CHROMOSOME

10

GENOMIC COORDINATES

hg19	hg38
94392326	92632569

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

c.1578C>A

PROTEIN CHANGE

p.His526Gln

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0038	0.0136	0.0014	0.0	0.0	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.0007081	0.009292	0.0007234	0.0	0.0	0.0	8.795e-06	0.0001631	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Possibly Damaging	2.525833	Polymorphism

DBSNP ID

1 combination linked to KIF11:c.1578C>A, p.His526Gln

1 disease linked to KIF11:c.1578C>A, p.His526Gln

Familial exudative vitreoretinopathy

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