NM_000939.4(POMC):c.583G>A (p.Ala195Thr) AND Obesity due to pro-opiomelanocortin deficiency
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- May 28, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000986597.9
Allele description [Variation Report for NM_000939.4(POMC):c.583G>A (p.Ala195Thr)]
NM_000939.4(POMC):c.583G>A (p.Ala195Thr)
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
-
Mus musculus exon junction complex subunit (Casc3), mRNA
Mus musculus exon junction complex subunit (Casc3), mRNAgi|160333567|ref|NM_138660.2|Nucleotide
-
DC038348 Osada Taira anterior endomesoderm (AEM) pCS105 cDNA library Xenopus lae...
DC038348 Osada Taira anterior endomesoderm (AEM) pCS105 cDNA library Xenopus laevis cDNA clone xlk108g21ex 5', mRNA sequencegi|118987815|gnl|dbEST|43288338|dbj 8348.1|Nucleotide
-
CBXT5024.g1 NICHD_XGC_trop_25 Xenopus tropicalis cDNA clone IMAGE:8887329 3', mR...
CBXT5024.g1 NICHD_XGC_trop_25 Xenopus tropicalis cDNA clone IMAGE:8887329 3', mRNA sequencegi|133809902|gnl|dbEST|45239509|gb| 549.1|Nucleotide
-
CBWN10385.b1 NICHD_XGC_tropTe1 Xenopus tropicalis cDNA clone IMAGE:8915407 5', m...
CBWN10385.b1 NICHD_XGC_tropTe1 Xenopus tropicalis cDNA clone IMAGE:8915407 5', mRNA sequencegi|133793435|gnl|dbEST|45223039|gb| 079.1|Nucleotide
-
AGENCOURT_90944410 NICHD_XGC_tropInt_60 Xenopus tropicalis cDNA clone IMAGE:8949...
AGENCOURT_90944410 NICHD_XGC_tropInt_60 Xenopus tropicalis cDNA clone IMAGE:8949830 5', mRNA sequencegi|117307793|gnl|dbEST|42620141|gb| 747.1|Nucleotide
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Last Updated: Oct 13, 2024