NM_002047.4(GARS1):c.815T>A (p.Leu272Gln) 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:
- RCV000789774.1
Allele description [Variation Report for NM_002047.4(GARS1):c.815T>A (p.Leu272Gln)]
NM_002047.4(GARS1):c.815T>A (p.Leu272Gln)
Condition(s)
Assertion and evidence details
Last Updated: Dec 17, 2023