NM_018960.6(GNMT):c.149T>C (p.Leu50Pro) AND Glycine N-methyltransferase deficiency
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jan 1, 2002
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000004386.3
Allele description [Variation Report for NM_018960.6(GNMT):c.149T>C (p.Leu50Pro)]
NM_018960.6(GNMT):c.149T>C (p.Leu50Pro)
Condition(s)
Assertion and evidence details
Last Updated: Sep 1, 2024