rs119476047 has not been reported to ClinVar. Refer to dbSNP record rs119476047 for details on variation at this location. Please consider submitting your interpretation of this variant to ClinVar
Genetic variation
- Clinical significance: not reported in ClinVar
- Reference allele: C
- Variation alleles: A, T
- Variation type: single nucleotide variation
- Organism: Homo sapiens
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GRCh38.p14: NC_000014.9: 50,614,424
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GRCh37.p13: NC_000014.8: 51,081,142
Genome Data Viewer
Source: KnownItemSensor
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 3A +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 3A | |
Click to view in NCBI Gene