This site uses cookies!

We use cookies for security, analytics and session persistence reasons. Please refer to our Cookie Policy for more information.

Select Cookie Preferences (Hover for info)

Details for SPG11:c.4365G>C, p.Trp1455Cys

CHROMOSOME

15

GENOMIC COORDINATES

hg19	hg38
44888350	44596152

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

G

TRANSCRIPT

N.A.

CDNA CHANGE

c.4365G>C

PROTEIN CHANGE

p.Trp1455Cys

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0002	0.0	0.0	0.0	0.001	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.0001235	0.0	0.0005204	0.0	0.0	0.0	7.056e-05	0.0008159	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	2.663746	Polymorphism

DBSNP ID

1 combination linked to SPG11:c.4365G>C, p.Trp1455Cys

1 disease linked to SPG11:c.4365G>C, p.Trp1455Cys

Amyotrophic lateral sclerosis

Found any issues with the data on this page? Report this entry.