NM_006415.4(SPTLC1):c.1402G>T (p.Ala468Ser) AND Charcot-Marie-Tooth disease
- Germline classification:
- Uncertain significance (1 submission)
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001174084.9
Allele description [Variation Report for NM_006415.4(SPTLC1):c.1402G>T (p.Ala468Ser)]
NM_006415.4(SPTLC1):c.1402G>T (p.Ala468Ser)
Condition(s)
Assertion and evidence details
Last Updated: Apr 15, 2024