NM_000162.5(GCK):c.775G>A (p.Ala259Thr) AND Maturity-onset diabetes of the young type 2
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jan 11, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000501758.7
Allele description [Variation Report for NM_000162.5(GCK):c.775G>A (p.Ala259Thr)]
NM_000162.5(GCK):c.775G>A (p.Ala259Thr)
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
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Arabidopsis thaliana Pentatricopeptide repeat (PPR) superfamily protein (AT4G028...
Arabidopsis thaliana Pentatricopeptide repeat (PPR) superfamily protein (AT4G02820), mRNAgi|1063720731|ref|NM_116516.4|Nucleotide
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protamine 2 [Homo sapiens]
protamine 2 [Homo sapiens]gi|6979762|gb|AAF34632.1|AF215713_1Protein
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See more...Assertion and evidence details
Last Updated: Feb 14, 2024