NM_000352.6(ABCC8):c.3435C>T (p.Ser1145=) 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:
- RCV002244771.2
Allele description [Variation Report for NM_000352.6(ABCC8):c.3435C>T (p.Ser1145=)]
NM_000352.6(ABCC8):c.3435C>T (p.Ser1145=)
Condition(s)
- Name:
- Transitory neonatal diabetes mellitus
- Synonyms:
- Transient neonatal diabetes mellitus
- Identifiers:
- MONDO: MONDO:0020525; MedGen: C0342273; Human Phenotype Ontology: HP:0008255
-
Cox6a2 protein, mouse [Supplementary Concept]
Cox6a2 protein, mouse [Supplementary Concept]heart-type of Cox6A; expressed in striated muscle; GenBank AK002506<br/>Date introduced: September 1, 2013<br/>MeSH
-
COX6A (1)
MeSH
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Last Updated: Sep 29, 2024