Variant (rsID / SNP)

rs138652708

rs138652708 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SPTLC2. Location: chromosome 14, position 77,978,652. Clinical significance in the table: Benign/Likely benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

SPTLC2Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 14:77978652
Cytoband: 14q24.3
HGVS: NM_004863.4(SPTLC2):c.1664C>T (p.Thr555Met)
Allele change: Missense_T555M

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.