NM_000371.4(TTR):c.290C>A (p.Ser97Tyr) AND Charcot-Marie-Tooth disease
- Germline classification:
- Pathogenic (1 submission)
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001173289.1
Allele description [Variation Report for NM_000371.4(TTR):c.290C>A (p.Ser97Tyr)]
NM_000371.4(TTR):c.290C>A (p.Ser97Tyr)
Condition(s)
Assertion and evidence details
Last Updated: May 1, 2024