Variant (rsID / SNP)
rs119482084
rs119482084 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SPTLC1. Location: chromosome 9, position 94,800,624. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
SPTLC1Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 9:94800624
- Cytoband
- 9q22.31
- HGVS
- NM_006415.4(SPTLC1):c.1160G>C (p.Gly387Ala)
- Allele change
- Missense_G387A
Associated conditions / phenotypes
Hereditary sensory and autonomic neuropathy type 1|Charcot-Marie-Tooth disease|Neuropathy, hereditary sensory and autonomic, type 1A
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.