rs312262763

Orientation

minus

Stabilized

minus

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

Make rs312262763(-;-)

Make rs312262763(-;T)

Reference

GRCh38 38.1/141

Chromosome

15

Position

44584425

Gene

SPG11

is a	snp
is	mentioned by
dbSNP	rs312262763
dbSNP (classic)	rs312262763
ClinGen	rs312262763
ebi	rs312262763
HLI	rs312262763
Exac	rs312262763
Gnomad	rs312262763
Varsome	rs312262763
LitVar	rs312262763
Map	rs312262763
PheGenI	rs312262763
Biobank	rs312262763
1000 genomes	rs312262763
hgdp	rs312262763
ensembl	rs312262763
geneview	rs312262763
scholar	rs312262763
google	rs312262763
pharmgkb	rs312262763
gwascentral	rs312262763
openSNP	rs312262763
23andMe	rs312262763
SNPshot	rs312262763
SNPdbe	rs312262763
MSV3d	rs312262763
GWAS Ctlg	rs312262763

Max Magnitude

0

ClinVar
Risk	rs312262763(-;-)
Alt	rs312262763(-;-)
Reference	Rs312262763(T;T)
Significance	Pathogenic
Disease	Spastic paraplegia 11
Variation	info
Gene	SPG11
CLNDBN	Spastic paraplegia 11, autosomal recessive
Reversed	1
HGVS	NC_000015.9:g.44876623delA
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000034221.2,

[PMID 18067136] Long-term course and mutational spectrum of spatacsin-linked spastic paraplegia.

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