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Variant (rsID / SNP)

rs45461899

SPTLC1

rs45461899 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SPTLC1. Location: chromosome 9, position 94,830,356. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

SPTLC1Benign
Clinical significance (as recorded)
Benign/Likely benign
Variant type
single nucleotide variant
Chromosome / position
9:94830356
Cytoband
9q22.31
HGVS
NM_006415.4(SPTLC1):c.452G>T (p.Arg151Leu)
Allele change
Missense_R151L

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.