NM_000162.5(GCK):c.127C>T (p.Arg43Cys) AND Maturity-onset diabetes of the young type 2
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Aug 2, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002285407.3
Allele description [Variation Report for NM_000162.5(GCK):c.127C>T (p.Arg43Cys)]
NM_000162.5(GCK):c.127C>T (p.Arg43Cys)
Condition(s)
- Name:
- Maturity-onset diabetes of the young type 2
- Synonyms:
- MODY type 2; Diabetes mellitus MODY type 2; MODY glucokinase-related; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0007453; MedGen: C0342277; Orphanet: 552; OMIM: 125851
-
Cysteine/Histidine-rich C1 domain family protein [Arabidopsis thaliana]
Cysteine/Histidine-rich C1 domain family protein [Arabidopsis thaliana]Gene ID:815879Gene
-
At.52732 AND (alive[prop]) (1)
Gene
-
Mus musculus crystallin, gamma D (Crygd), mRNA
Mus musculus crystallin, gamma D (Crygd), mRNAgi|6681038|ref|NM_007776.1|Nucleotide
-
LOC110611097 [Manihot esculenta]
LOC110611097 [Manihot esculenta]Gene ID:110611097Gene
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See more...Assertion and evidence details
Last Updated: Oct 13, 2024