Variant (rsID / SNP)

rs267607088

rs267607088 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SPTLC1. Location: chromosome 9, position 94,809,480. Clinical significance in the table: Uncertain significance.

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Reference-table entries

SPTLC1Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 9:94809480
Cytoband: 9q22.31
HGVS: NM_006415.4(SPTLC1):c.1055C>T (p.Ala352Val)
Allele change: Missense_A352V

Associated conditions / phenotypes

Neuropathy, hereditary sensory and autonomic, type 1A|Hereditary sensory and autonomic neuropathy type 1

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.