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Details for KIF7:c.811delG, p.Glu271ArgfsTer51

CHROMOSOME

15

GENOMIC COORDINATES

hg19	hg38
90192316	89649085

VARIANT EFFECT

frameshift

ANNOTATION FLAG

manually_attributed

GENE

REFERENCE ALLELE

TC

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.811delG

PROTEIN CHANGE

p.Glu271ArgfsTer51

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
None	None	4.708641	Disease causing

DBSNP ID

1 combination linked to KIF7:c.811delG, p.Glu271ArgfsTer51

1 disease linked to KIF7:c.811delG, p.Glu271ArgfsTer51

Joubert syndrome

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