Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs748723735

SPTLC1

rs748723735 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SPTLC1. Location: chromosome 9, position 94,794,767. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

SPTLC1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
9:94794767
Cytoband
9q22.31
HGVS
NM_006415.4(SPTLC1):c.1402G>T (p.Ala468Ser)
Allele change
Missense_A468S

Associated conditions / phenotypes

Hereditary sensory and autonomic neuropathy type 1|Charcot-Marie-Tooth disease

Public references

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