NM_000545.8(HNF1A):c.884C>T (p.Pro295Leu) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Feb 19, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002490017.3
Allele description [Variation Report for NM_000545.8(HNF1A):c.884C>T (p.Pro295Leu)]
NM_000545.8(HNF1A):c.884C>T (p.Pro295Leu)
Condition(s)
- Name:
- Diabetes mellitus type 1 (T1D)
- Synonyms:
- Type I diabetes mellitus
- Identifiers:
- MONDO: MONDO:0005147; MedGen: C0011854; OMIM: 222100; Human Phenotype Ontology: HP:0100651
- Name:
- Type 1 diabetes mellitus 20 (T1D20)
- Synonyms:
- Diabetes mellitus, insulin-dependent, 20
- Identifiers:
- MONDO: MONDO:0012919; MedGen: C2675866; OMIM: 612520
- Name:
- Maturity-onset diabetes of the young type 3
- Synonyms:
- Diabetes mellitus MODY type 3; MODY hepatocyte nuclear factor-1-alpha related; MODY type 3; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0010894; MedGen: C1838100; Orphanet: 552; OMIM: 600496
- Name:
- Type 2 diabetes mellitus
- Synonyms:
- DIABETES MELLITUS, TYPE 2, PROTECTION AGAINST; Type II diabetes mellitus; Diabetes mellitus, noninsulin-dependent, late onset
- Identifiers:
- MONDO: MONDO:0005148; MeSH: D003924; MedGen: C0011860; OMIM: 125853; Human Phenotype Ontology: HP:0005978
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LOC109279998 [Mus musculus]
LOC109279998 [Mus musculus]Gene ID:109279998Gene
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Taxonomy Links for Nucleotide (Select 2462628064) (1)
Taxonomy
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Last Updated: Nov 3, 2024