rs312262741

Orientation

minus

Stabilized

minus

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

Make rs312262741(-;-)

Make rs312262741(-;AG)

Make rs312262741(AG;AG)

Reference

GRCh38 38.1/141

Chromosome

15

Position

44622308

Gene

SPG11

is a	snp
is	mentioned by
dbSNP	rs312262741
dbSNP (classic)	rs312262741
ClinGen	rs312262741
ebi	rs312262741
HLI	rs312262741
Exac	rs312262741
Gnomad	rs312262741
Varsome	rs312262741
LitVar	rs312262741
Map	rs312262741
PheGenI	rs312262741
Biobank	rs312262741
1000 genomes	rs312262741
hgdp	rs312262741
ensembl	rs312262741
geneview	rs312262741
scholar	rs312262741
google	rs312262741
pharmgkb	rs312262741
gwascentral	rs312262741
openSNP	rs312262741
23andMe	rs312262741
SNPshot	rs312262741
SNPdbe	rs312262741
MSV3d	rs312262741
GWAS Ctlg	rs312262741

Max Magnitude

0

ClinVar
Risk	rs312262741(-;-)
Alt	rs312262741(-;-)
Reference	Rs312262741(GA;GA)
Significance	Pathogenic
Disease	Spastic paraplegia 11
Variation	info
Gene	SPG11
CLNDBN	Spastic paraplegia 11, autosomal recessive
Reversed	1
HGVS	NC_000015.9:g.44914506_44914507delCT
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000034190.2,

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