Have questions? Visit https://www.reddit.com/r/SNPedia

rs12960

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs12960(A;A)
Make rs12960(A;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position89553920
GeneSPG7
is asnp
is mentioned by
dbSNPrs12960
ebirs12960
HLIrs12960
Exacrs12960
Varsomers12960
Maprs12960
PheGenIrs12960
hapmaprs12960
1000 genomesrs12960
hgdprs12960
ensemblrs12960
gopubmedrs12960
geneviewrs12960
scholarrs12960
googlers12960
pharmgkbrs12960
gwascentralrs12960
openSNPrs12960
23andMers12960
23andMe allrs12960
SNP Nexus

SNPshotrs12960
SNPdbers12960
MSV3drs12960
GWAS Ctlgrs12960
GMAF0.118
Max Magnitude0
? (A;A) (A;G) (G;G) 28
Venter snp
Source plos
Gene SPG7
allele A
frequency 0.123
sift TOLERATED
HuRef 1103645552733
Disease Association Defects in SPG7 are the cause of spastic paraplegia-7 (SPG7) (MIM:607259). SPG7 is a form of autosomal recessive hereditary spastic paraplegia (AR-HSP). HSP is a group of inherited degenerative spinal cord disorders characterized by a slow, gradual, progressive weakness and spasticity (stiffness) of the legs. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. Rate of progression and the severity of symptoms are quite variable.




GET Evidence
SPG7-R688Q
aa_change Arg688Gln
aa_change_short R688Q
impact pharmacogenetic
qualified_impact Insufficiently evaluated pharmacogenetic
overall_frequency 0.14206
summary The SPG7 gene (spastic paraplegia 7) encodes the mitochondrial protein paraplegin. Mutations in this gene are associated with hereditary spastic paraplegia (HSP), which is characterized by progressive stiffness and weakness in the lower limbs. The gene is located on Chromosome 16 and consists of 17 exons spanning 52kb. This is the only gene in which mutations are known to cause hereditary spastic paraplegia. Alleles are inherited in an autosomal recessive manner. The R688Q mutation is a single nucleotide polymorphism at exon 15. The polymorphism changes the ancestral allele, G, to an A at base pair 2063. This allele is also known as rs12960, which was shown to be associated with toxicity responses to chemotherapy drugs such as Docetaxel.



ClinVar
Risk rs12960(A;A)
Alt rs12960(A;A)
Reference rs12960(G;G)
Significance Probable-non-pathogenic
Disease not specified
Variation info
Gene RPL13 SPG7
CLNDBN not specified
Reversed 0
HGVS NC_000016.9:g.89620328G>A
CLNSRC ClinVar University of Chicago
CLNACC RCV000118410.2,