Gene entry
SPTLC1
serine palmitoyltransferase long chain base subunit 1
- Chromosome
- 9
- Cytoband
- 9q22.31
- Variants (rsID)
- 21
SPTLC1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 9 (region 9q22.31). Its official name is “serine palmitoyltransferase long chain base subunit 1”. The reference table lists 21 variants (rsID) for this gene.
Clinically classified variants
5 reference-table entries with clinical significance.
- rs45461899Benignsingle nucleotide variantHereditary sensory and autonomic neuropathy type 1|Charcot-Marie-Tooth disease|Neuropathy, hereditary sensory and autonomic, type 1A
- rs119482084Conflicting interpretationssingle nucleotide variantHereditary sensory and autonomic neuropathy type 1|Charcot-Marie-Tooth disease|Neuropathy, hereditary sensory and autonomic, type 1A
- rs748723735Conflicting interpretationssingle nucleotide variantHereditary sensory and autonomic neuropathy type 1|Charcot-Marie-Tooth disease
- rs119482083Pathogenicsingle nucleotide variantHereditary sensory and autonomic neuropathy type 1|Charcot-Marie-Tooth disease|Neuropathy, hereditary sensory and autonomic, type 1A
- rs267607088Uncertain significancesingle nucleotide variantNeuropathy, hereditary sensory and autonomic, type 1A|Hereditary sensory and autonomic neuropathy type 1
Other listed variants
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.