NM_000534.5(PMS1):c.175G>A (p.Glu59Lys) AND PMS1-related disorder
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Sep 29, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003955790.2
Allele description [Variation Report for NM_000534.5(PMS1):c.175G>A (p.Glu59Lys)]
NM_000534.5(PMS1):c.175G>A (p.Glu59Lys)
Condition(s)
- Name:
- PMS1-related disorder
- Synonyms:
- PMS1-related condition
- Identifiers:
-
E3 ubiquitin-protein ligase MARCH6 [Drosophila sechellia]
E3 ubiquitin-protein ligase MARCH6 [Drosophila sechellia]gi|195336872|ref|XP_002035057.1|Protein
-
LOC130806132 [Amaranthus tricolor]
LOC130806132 [Amaranthus tricolor]Gene ID:130806132Gene
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Last Updated: Oct 13, 2024