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Details for SPG11:c.5623C>T, p.Gln1875Ter

CHROMOSOME

15

GENOMIC COORDINATES

hg19	hg38
44876255	44584057

VARIANT EFFECT

nonsense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.5623C>T

PROTEIN CHANGE

p.Gln1875Ter

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
3.182e-05	6.152e-05	0.0	0.0	0.0	0.0	6.157e-05	0.0	0.0

ESP
AA	EA
0.0002275	0.0001163

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
None	None	6.764849	Disease causing

DBSNP ID

1 combination linked to SPG11:c.5623C>T, p.Gln1875Ter

1 disease linked to SPG11:c.5623C>T, p.Gln1875Ter

Amyotrophic lateral sclerosis

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