Variant: rs119482081 

    present in Gene: SPTLC1
    present in Chromosome: 9
    Position on Chromosome: 92080045
    Alleles of this Variant: C/T

rs119482081 in SPTLC1 gene and Hereditary Sensory Autonomic Neuropathy, Type 1 PMID 20097765 2010 Hereditary sensory neuropathy type 1 is caused by the accumulation of two neurotoxic sphingolipids.

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

PMID 19132419 2009 A systematic comparison of all mutations in hereditary sensory neuropathy type I (HSAN I) reveals that the G387A mutation is not disease associated.

PMID 12417569 2002 Although in HSN1 lymphoblasts, the C133Y and C133W mutations do not alter the steady-state levels of LCB1 and LCB2 subunits, they result in reduced SPT activity and sphingolipid synthesis.