NM_000525.4(KCNJ11):c.575G>A (p.Arg192His) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 23, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002493095.3
Allele description [Variation Report for NM_000525.4(KCNJ11):c.575G>A (p.Arg192His)]
NM_000525.4(KCNJ11):c.575G>A (p.Arg192His)
Condition(s)
- Name:
- Diabetes mellitus, transient neonatal, 3
- Identifiers:
- MONDO: MONDO:0012522; MedGen: C1864623; Orphanet: 99886; OMIM: 610582
- Name:
- Hyperinsulinemic hypoglycemia, familial, 2
- Synonyms:
- HYPERINSULINEMIC HYPOGLYCEMIA, PERSISTENT; HYPERINSULINISM, NEONATAL
- Identifiers:
- MONDO: MONDO:0011153; MedGen: C2931833; Orphanet: 276580; Orphanet: 276603; OMIM: 601820
- Name:
- Type 2 diabetes mellitus
- Synonyms:
- DIABETES MELLITUS, TYPE 2, PROTECTION AGAINST; Type II diabetes mellitus; Diabetes mellitus, noninsulin-dependent, late onset
- Identifiers:
- MONDO: MONDO:0005148; MeSH: D003924; MedGen: C0011860; OMIM: 125853; Human Phenotype Ontology: HP:0005978
-
Mus musculus wingless-type MMTV integration site family, member 7B (Wnt7b), tran...
Mus musculus wingless-type MMTV integration site family, member 7B (Wnt7b), transcript variant 1, mRNAgi|254692921|ref|NM_009528.3|Nucleotide
-
RecName: Full=Serine palmitoyltransferase 3; AltName: Full=Long chain base biosy...
RecName: Full=Serine palmitoyltransferase 3; AltName: Full=Long chain base biosynthesis protein 2b; Short=LCB2b; AltName: Full=Long chain base biosynthesis protein 3; Short=LCB 3; AltName: Full=Serine-palmitoyl-CoA transferase 3; Short=SPT 3gi|158931158|sp|Q9NUV7.3|SPTC3_HUMAProtein
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Sep 16, 2024