rs312262722

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(A;A)	0	common in clinvar

Make rs312262722(-;-)

Make rs312262722(-;A)

Reference

GRCh38 38.1/141

Chromosome

15

Position

44651744

Gene

SPG11

is a	snp
is	mentioned by
dbSNP	rs312262722
dbSNP (classic)	rs312262722
ClinGen	rs312262722
ebi	rs312262722
HLI	rs312262722
Exac	rs312262722
Gnomad	rs312262722
Varsome	rs312262722
LitVar	rs312262722
Map	rs312262722
PheGenI	rs312262722
Biobank	rs312262722
1000 genomes	rs312262722
hgdp	rs312262722
ensembl	rs312262722
geneview	rs312262722
scholar	rs312262722
google	rs312262722
pharmgkb	rs312262722
gwascentral	rs312262722
openSNP	rs312262722
23andMe	rs312262722
SNPshot	rs312262722
SNPdbe	rs312262722
MSV3d	rs312262722
GWAS Ctlg	rs312262722

Max Magnitude

0

ClinVar
Risk	rs312262722(-;-)
Alt	rs312262722(-;-)
Reference	Rs312262722(A;A)
Significance	Pathogenic
Disease	Spastic paraplegia 11
Variation	info
Gene	SPG11
CLNDBN	Spastic paraplegia 11, autosomal recessive
Reversed	1
HGVS	NC_000015.9:g.44943942delT
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000034169.2,

[PMID 17322883] Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum.

[PMID 19105190] Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion.