NM_000545.8(HNF1A):c.749A>C (p.Gln250Pro) AND Maturity onset diabetes mellitus in young
- Germline classification:
- Likely risk allele (1 submission)
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002463713.1
Allele description [Variation Report for NM_000545.8(HNF1A):c.749A>C (p.Gln250Pro)]
NM_000545.8(HNF1A):c.749A>C (p.Gln250Pro)
Condition(s)
- Name:
- Maturity onset diabetes mellitus in young (MODY)
- Synonyms:
- Mason type diabetes
- Identifiers:
- MONDO: MONDO:0018911; MedGen: C0342276; Orphanet: 552; OMIM: 606391; Human Phenotype Ontology: HP:0004904
-
Diffuse Axonal Injury - Translational Research in Traumatic Brain Injury
Diffuse Axonal Injury - Translational Research in Traumatic Brain Injury
-
LOC108325941 [Vigna angularis]
LOC108325941 [Vigna angularis]Gene ID:108325941Gene
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See more...Assertion and evidence details
Last Updated: Jun 23, 2024