NM_000545.8(HNF1A):c.626C>A (p.Ala209Glu) AND HNF1A-related disorder
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Aug 3, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003392554.4
Allele description [Variation Report for NM_000545.8(HNF1A):c.626C>A (p.Ala209Glu)]
NM_000545.8(HNF1A):c.626C>A (p.Ala209Glu)
Condition(s)
- Name:
- HNF1A-related disorder
- Synonyms:
- HNF1A-related condition
- Identifiers:
-
hypothetical protein HhV6Bgp027 [Human betaherpesvirus 6B]
hypothetical protein HhV6Bgp027 [Human betaherpesvirus 6B]gi|9633094|ref|NP_050204.1|Protein
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Last Updated: May 12, 2024