rs548820679

This variant is located in the SPTLC2 gene.

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ClinVar annotation

Uncertain Significance★☆☆☆

1 submitter

Neuropathy, hereditary sensory and autonomic, type 1C

About SPTLC2

This gene encodes a long chain base subunit of serine palmitoyltransferase. Serine palmitoyltransferase, which consists of two different subunits, is the key enzyme in sphingolipid biosynthesis. It catalyzes the pyridoxal-5-prime-phosphate-dependent condensation of L-serine and palmitoyl-CoA to 3-oxosphinganine. Mutations in this gene were identified in patients with hereditary sensory neuropathy type I. [provided by RefSeq, Mar 2011]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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