Variant: rs267607089 

    present in Gene: SPTLC2
    present in Chromosome: 14
    Position on Chromosome: 77555331
    Alleles of this Variant: C/A

rs267607089 in SPTLC2 gene and NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC PMID 26573920 2016 The Variant p.(Arg183Trp) in SPTLC2 Causes Late-Onset Hereditary Sensory Neuropathy.

PMID 24175284 2013 The pyridoxal 5'-phosphate (PLP)-dependent enzyme serine palmitoyltransferase (SPT): effects of the small subunits and insights from bacterial mimics of human hLCB2a HSAN1 mutations.

PMID 26681808 2016 HSAN1 mutations in serine palmitoyltransferase reveal a close structure-function-phenotype relationship.

PMID 20920666 2010 Mutations in the SPTLC2 subunit of serine palmitoyltransferase cause hereditary sensory and autonomic neuropathy type I.

PMID 23658386 2013 Hereditary sensory and autonomic neuropathy type 1 (HSANI) caused by a novel mutation in SPTLC2.