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rs312262720

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(AT;AT) 0 common in clinvar
Make rs312262720(-;-)
Make rs312262720(-;AT)
ReferenceGRCh38 38.1/141
Chromosome15
Position44657230
GeneSPG11
is asnp
is mentioned by
dbSNPrs312262720
ClinGenrs312262720
ebirs312262720
HLIrs312262720
Exacrs312262720
Varsomers312262720
Maprs312262720
PheGenIrs312262720
hapmaprs312262720
1000 genomesrs312262720
hgdprs312262720
ensemblrs312262720
gopubmedrs312262720
geneviewrs312262720
scholarrs312262720
googlers312262720
pharmgkbrs312262720
gwascentralrs312262720
openSNPrs312262720
23andMers312262720
23andMe allrs312262720
SNP Nexus

SNPshotrs312262720
SNPdbers312262720
MSV3drs312262720
GWAS Ctlgrs312262720
Max Magnitude0
ClinVar
Risk rs312262720(-;-)
Alt rs312262720(-;-)
Reference Rs312262720(AT;AT)
Significance Pathogenic
Disease Spastic paraplegia 11 Amyotrophic lateral sclerosis type 5 not provided
Variation info
Gene SPG11
CLNDBN Spastic paraplegia 11, autosomal recessive Amyotrophic lateral sclerosis type 5 not provided
Reversed 1
HGVS NC_000015.9:g.44949428_44949429delAT
CLNSRC OMIM Allelic Variant
CLNACC RCV000001171.6, RCV000193699.2, RCV000256068.1,


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


[PMID 17717710] SPG11: a consistent clinical phenotype in a family with homozygous spatacsin truncating mutation.


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


[PMID 18079167] Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration.


[PMID 18332254] Hereditary spastic paraplegia with mental impairment and thin corpus callosum in Tunisia: SPG11, SPG15, and further genetic heterogeneity.


[PMID 18835492] Novel mutations of the SPG11 gene in hereditary 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.