NM_000162.5(GCK):c.562G>A (p.Ala188Thr) AND Maturity-onset diabetes of the young type 2
- Germline classification:
- Pathogenic (3 submissions)
- Last evaluated:
- Sep 1, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001248939.7
Allele description [Variation Report for NM_000162.5(GCK):c.562G>A (p.Ala188Thr)]
NM_000162.5(GCK):c.562G>A (p.Ala188Thr)
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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PAPSS1 3'-phosphoadenosine 5'-phosphosulfate synthase 1 [Sus scrofa]
PAPSS1 3'-phosphoadenosine 5'-phosphosulfate synthase 1 [Sus scrofa]Gene ID:106504748Gene
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Adenoidectomy
AdenoidectomyExcision of the adenoids. (Dorland, 28th ed)<br/>MeSH
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Skin Diseases, Papulosquamous
Skin Diseases, PapulosquamousA group of dermatoses with distinct morphologic features. The primary lesion is most commonly a papule, usually erythematous, with a variable degree of scaling on the surface....<br/>Year introduced: 1993MeSH
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Profile neighbors for GEO Profiles (Select 78877865) (200)
GEO Profiles
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Chromosome neighbors for GEO Profiles (Select 78825548) (20)
GEO Profiles
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See more...Assertion and evidence details
Last Updated: May 7, 2024