NM_000525.4(KCNJ11):c.101G>A (p.Arg34His) AND Type 2 diabetes mellitus
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Mar 30, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003463055.2
Allele description [Variation Report for NM_000525.4(KCNJ11):c.101G>A (p.Arg34His)]
NM_000525.4(KCNJ11):c.101G>A (p.Arg34His)
Condition(s)
- 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
-
Homo sapiens MYB proto-oncogene, transcription factor (MYB), transcript variant ...
Homo sapiens MYB proto-oncogene, transcription factor (MYB), transcript variant 11, non-coding RNAgi|1700660427|ref|NR_134960.2|Nucleotide
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Last Updated: Sep 29, 2024