Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs119482083

SPTLC1

rs119482083 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SPTLC1. Location: chromosome 9, position 94,830,377. Clinical significance in the table: Pathogenic/Likely pathogenic.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

SPTLC1Pathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
9:94830377
Cytoband
9q22.31
HGVS
NM_006415.4(SPTLC1):c.431T>A (p.Val144Asp)
Allele change
Missense_V144D

Associated conditions / phenotypes

Hereditary sensory and autonomic neuropathy type 1|Charcot-Marie-Tooth disease|Neuropathy, hereditary sensory and autonomic, type 1A

Public references

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