NM_000939.4(POMC):c.133-2A>C AND Obesity due to pro-opiomelanocortin deficiency
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Oct 12, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000500140.6
Allele description [Variation Report for NM_000939.4(POMC):c.133-2A>C]
NM_000939.4(POMC):c.133-2A>C
Condition(s)
- Name:
- Obesity due to pro-opiomelanocortin deficiency
- Synonyms:
- Proopiomelanocortin deficiency; Obesity, adrenal insufficiency, and red hair due to POMC deficiency; OBESITY, EARLY-ONSET, WITH ADRENAL INSUFFICIENCY AND RED HAIR
- Identifiers:
- MONDO: MONDO:0012335; MedGen: C1857854; Orphanet: 71526; OMIM: 609734
Assertion and evidence details
Last Updated: Oct 14, 2023