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Details for SPG7:c.376+1G>T,

CHROMOSOME

16

GENOMIC COORDINATES

hg19	hg38
89579446	89513038

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

c.376+1G>T

PROTEIN CHANGE

None

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
8.728e-06	0.0	0.0	0.0	0.0	0.0	2.017e-05	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
None	None	5.358319	Disease causing

DBSNP ID

1 combination linked to SPG7:c.376+1G>T,

1 disease linked to SPG7:c.376+1G>T,

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