Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs199867946

SPTLC2

rs199867946 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SPTLC2. Location: chromosome 14, position 78,023,494. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

SPTLC2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
14:78023494
Cytoband
14q24.3
HGVS
NM_004863.4(SPTLC2):c.851-5T>C
Allele change
Silent

Associated conditions / phenotypes

Neuropathy, hereditary sensory and autonomic, type 1C

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.