Variant (rsID / SNP)

rs1063271

rs1063271 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SPTLC2. Location: chromosome 14, position 77,974,990. Clinical significance in the table: Benign.

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Reference-table entries

SPTLC2Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 14:77974990
Cytoband: 14q24.3
HGVS: NM_004863.4(SPTLC2):c.*3637G>A
Allele change: Silent

Associated conditions / phenotypes

Neuropathy, hereditary sensory and autonomic, type 1C

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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