NM_000939.4(POMC):c.18C>T (p.Cys6=) AND Obesity
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000394433.5
Allele description [Variation Report for NM_000939.4(POMC):c.18C>T (p.Cys6=)]
NM_000939.4(POMC):c.18C>T (p.Cys6=)
Condition(s)
- Name:
- Obesity
- Synonyms:
- Obesity disorder
- Identifiers:
- MONDO: MONDO:0011122; MeSH: D009765; MedGen: C0028754; Orphanet: 71529; Human Phenotype Ontology: HP:0001513
-
Homo sapiens delta/notch like EGF repeat containing (DNER), mRNA
Homo sapiens delta/notch like EGF repeat containing (DNER), mRNAgi|1519242397|ref|NM_139072.4|Nucleotide
-
Chain P, U1-A
Chain P, U1-Agi|315583607|pdb|3PGW|PProtein
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Last Updated: Oct 20, 2024