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Details for FUZ:c.819C>A, p.Asp273Glu

CHROMOSOME

19

GENOMIC COORDINATES

hg19	hg38
50312048	49808791

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.819C>A

PROTEIN CHANGE

p.Asp273Glu

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
0.0	0.0	0.0	0.0	0.0	0.0	0.0	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	0.9735	Polymorphism

DBSNP ID

1 combination linked to FUZ:c.819C>A, p.Asp273Glu

1 disease linked to FUZ:c.819C>A, p.Asp273Glu

Isolated Klippel-Feil syndrome

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