NM_015506.3(MMACHC):c.332G>A (p.Arg111Gln) AND MMACHC-related disorder
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jul 15, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003943077.2
Allele description [Variation Report for NM_015506.3(MMACHC):c.332G>A (p.Arg111Gln)]
NM_015506.3(MMACHC):c.332G>A (p.Arg111Gln)
Condition(s)
- Name:
- MMACHC-related disorder
- Synonyms:
- MMACHC-related condition
- Identifiers:
-
epsin-1 isoform X2 [Pan troglodytes]
epsin-1 isoform X2 [Pan troglodytes]gi|2697773372|ref|XP_063656948.1|Protein
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Last Updated: Oct 13, 2024