NM_000352.6(ABCC8):c.4154CCT[1] (p.Ser1386del) AND Transitory neonatal diabetes mellitus
- Germline classification:
- Uncertain significance (1 submission)
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002243633.10
Allele description [Variation Report for NM_000352.6(ABCC8):c.4154CCT[1] (p.Ser1386del)]
NM_000352.6(ABCC8):c.4154CCT[1] (p.Ser1386del)
Condition(s)
- Name:
- Transitory neonatal diabetes mellitus
- Synonyms:
- Transient neonatal diabetes mellitus
- Identifiers:
- MONDO: MONDO:0020525; MedGen: C0342273; Human Phenotype Ontology: HP:0008255
-
hypothetical protein BEWA_019730 [Theileria equi strain WA]
hypothetical protein BEWA_019730 [Theileria equi strain WA]gi|510900123|ref|XP_004828793.1|Protein
-
RAC-beta serine/threonine-protein kinase-like [Myxocyprinus asiaticus]
RAC-beta serine/threonine-protein kinase-like [Myxocyprinus asiaticus]gi|2324662030|ref|XP_051540705.1|Protein
-
Tssr82911 AND (alive[prop]) (0)
Gene
-
protein Niban 2, partial [Lonchura striata]
protein Niban 2, partial [Lonchura striata]gi|1210018737|ref|XP_021403767.1|Protein
-
sodium/potassium-transporting ATPase subunit alpha-2 isoform X1 [Camelus bactria...
sodium/potassium-transporting ATPase subunit alpha-2 isoform X1 [Camelus bactrianus]gi|743720281|ref|XP_010953935.1|Protein
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See more...Assertion and evidence details
Last Updated: Oct 13, 2024