NM_006415.4(SPTLC1):c.509C>T (p.Thr170Ile) AND Hereditary sensory and autonomic neuropathy type 1
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 9, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003613250.1
Allele description [Variation Report for NM_006415.4(SPTLC1):c.509C>T (p.Thr170Ile)]
NM_006415.4(SPTLC1):c.509C>T (p.Thr170Ile)
Condition(s)
- Name:
- Hereditary sensory and autonomic neuropathy type 1 (HSAN1)
- Synonyms:
- HSAN 1; Neuropathy hereditary sensory radicular, autosomal dominant; Hereditary sensory neuropathy type 1; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0018213; MedGen: C0020071; Orphanet: 36386
-
PREDICTED: Homo sapiens TNF alpha induced protein 8 (TNFAIP8), transcript varian...
PREDICTED: Homo sapiens TNF alpha induced protein 8 (TNFAIP8), transcript variant X3, mRNAgi|2217355475|ref|XM_047417081.1|Nucleotide
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Last Updated: Feb 28, 2024