NM_005120.3(MED12):c.3443G>A (p.Arg1148His) AND not provided
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Oct 23, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001268310.10
Allele description [Variation Report for NM_005120.3(MED12):c.3443G>A (p.Arg1148His)]
NM_005120.3(MED12):c.3443G>A (p.Arg1148His)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
-
Cuticle collagen sqt-1 [Caenorhabditis elegans]
Cuticle collagen sqt-1 [Caenorhabditis elegans]gi|1845972962|ref|NP_001369874.1|Protein
-
lev-8 AcetylCholine Receptor [Caenorhabditis elegans]
lev-8 AcetylCholine Receptor [Caenorhabditis elegans]Gene ID:191600Gene
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Last Updated: Nov 10, 2024