NM_000352.6(ABCC8):c.3455C>T (p.Ala1152Val) 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:
- RCV002274051.2
Allele description [Variation Report for NM_000352.6(ABCC8):c.3455C>T (p.Ala1152Val)]
NM_000352.6(ABCC8):c.3455C>T (p.Ala1152Val)
Condition(s)
- Name:
- Transitory neonatal diabetes mellitus
- Synonyms:
- Transient neonatal diabetes mellitus
- Identifiers:
- MONDO: MONDO:0020525; MedGen: C0342273; Human Phenotype Ontology: HP:0008255
-
Xiphophorus maculatus strain JP 163 A isolate XMAC-090115_JP163A Contig34.78, wh...
Xiphophorus maculatus strain JP 163 A isolate XMAC-090115_JP163A Contig34.78, whole genome shotgun sequencegi|367137694|gb|AGAJ01007371.1||gnl AGAJ01|Contig34.78Nucleotide
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Last Updated: Sep 29, 2024