NM_000208.4(INSR):c.225C>T (p.Asp75=) AND Insulin-resistant diabetes mellitus AND acanthosis nigricans
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 12, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001130270.5
Allele description [Variation Report for NM_000208.4(INSR):c.225C>T (p.Asp75=)]
NM_000208.4(INSR):c.225C>T (p.Asp75=)
Condition(s)
- Name:
- Insulin-resistant diabetes mellitus AND acanthosis nigricans
- Synonyms:
- DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS, TYPE A; INSULIN RECEPTOR, DEFECT IN, WITH INSULIN-RESISTANT DIABETES MELLITUS AND ACANTHOSIS NIGRICANS; IRAN, TYPE A; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0012520; MedGen: C0342278; Orphanet: 2297; OMIM: 610549
-
Homo sapiens
Homo sapiensRefSeq annotation of the human reference genome assemblyBioProject
-
BioProject Links for Protein (Select 2217289256) (1)
BioProject
-
Taxonomy Links for Nucleotide (Select 2217321560) (1)
Taxonomy
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Last Updated: Mar 16, 2024