NM_015506.3(MMACHC):c.382TAC[2] (p.Tyr130del) AND MMACHC-related disorder
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Aug 18, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003407684.4
Allele description [Variation Report for NM_015506.3(MMACHC):c.382TAC[2] (p.Tyr130del)]
NM_015506.3(MMACHC):c.382TAC[2] (p.Tyr130del)
Condition(s)
- Name:
- MMACHC-related disorder
- Synonyms:
- MMACHC-related condition
- Identifiers:
Assertion and evidence details
Last Updated: May 19, 2024