{{Rsnum
|rsid=2292954
|Gene=SPG7
|Chromosome=16
|position=89546715
|Orientation=minus
|ReferenceAllele=A
|MissenseAllele=G
|GMAF=0.1189
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene_s=SPG7
}}{{ population diversity
| geno1=(C;C)
| geno2=(C;T)
| geno3=(T;T)
| CEU | 2.7 | 21.2 | 76.1
| HCB | 1.5 | 22.8 | 75.7
| JPT | 1.8 | 11.5 | 86.7
| YRI | 0.0 | 0.0 | 100.0
| ASW | 0.0 | 10.5 | 89.5
| CHB | 1.5 | 22.8 | 75.7
| CHD | 1.8 | 23.9 | 74.3
| GIH | 2.0 | 25.7 | 72.3
| LWK | 0.0 | 0.9 | 99.1
| MEX | 0.0 | 24.1 | 75.9
| MKK | 0.0 | 3.2 | 96.8
| TSI | 6.9 | 32.4 | 60.8
| HapMapRevision=28
}}{{Venter SNP
|rsid=2292954
|allele=G
|frequency=0.15
|uid=1103645552728
|type=heterozygous_SNP
|hugo=SPG7
|ensembl gene=ENSG00000197912
|ensembl transcript=ENST00000268704
|sift=TOLERATED
|disease=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.
}}

{{PharmGKB
|RSID=rs2292954
|Name_s=SPG7:rs2292954 C>T; NM_003119.2:c.1507A>G; NP_003110.1:p.Thr503Ala
|Gene_s=SPG7
|Feature=Exon/NonSyn
|Evidence=PubMed ID:20038957
|Annotation=Risk or phenotype-associated allele: T Phenotype: The SPG7:rs2292954 T variant was associated with toxicity in response to docetaxel and thalidomide. Study size: 47 Study population/ethnicity: Patients diagnosed with castration-resistant prostate cancer enrolled in a randomized phase II clinical trial comparing docetaxel to docetaxel with thalidomide. Significance metric(s): p = 0.0004 Type of association: CO; TOX
|Drugs=docetaxel; thalidomide
|Drug Classes=
|Diseases=Prostatic Neoplasms
|Curation Level=Curated
|PharmGKB Accession ID=PA165111536
}}

{{GET Evidence
|gene=SPG7
|aa_change=Thr503Ala
|aa_change_short=T503A
|impact=pharmacogenetic
|qualified_impact=Insufficiently evaluated pharmacogenetic
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs2292954
|overall_frequency_n=1530
|overall_frequency_d=10758
|overall_frequency=0.14222
|n_genomes=15
|n_genomes_annotated=0
|n_haplomes=17
|n_articles=1
|n_articles_annotated=1
|gene_in_genetests=Y
|in_pharmgkb=Y
|pph2_score=0.001
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=1
|autoscore=4
|webscore=N
|n_web_uneval=3
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | FTDNA2}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}