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rs312262759

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(AA;AA) 0 common in clinvar
Make rs312262759(-;-)
Make rs312262759(-;AA)
ReferenceGRCh38 38.1/141
Chromosome15
Position44596209
GeneSPG11
is asnp
is mentioned by
dbSNPrs312262759
ebirs312262759
HLIrs312262759
Exacrs312262759
Varsomers312262759
Maprs312262759
PheGenIrs312262759
hapmaprs312262759
1000 genomesrs312262759
hgdprs312262759
ensemblrs312262759
gopubmedrs312262759
geneviewrs312262759
scholarrs312262759
googlers312262759
pharmgkbrs312262759
gwascentralrs312262759
openSNPrs312262759
23andMers312262759
23andMe allrs312262759
SNP Nexus

SNPshotrs312262759
SNPdbers312262759
MSV3drs312262759
GWAS Ctlgrs312262759
Max Magnitude0
ClinVar
Risk rs312262759(;)
Alt rs312262759(;)
Reference rs312262759(AA;AA)
Significance Pathogenic
Disease Spastic paraplegia 11
Variation info
Gene SPG11
CLNDBN Spastic paraplegia 11, autosomal recessive
Reversed 1
HGVS NC_000015.9:g.44888407_44888408delTT
CLNSRC ClinVar GeneReviews
CLNACC RCV000034216.2,


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


[PMID 18361476] Two novel mutations in the SPG11 gene causing hereditary spastic paraplegia associated with thin corpus callosum.


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