NM_000162.5(GCK):c.947T>A (p.Phe316Tyr) AND Maturity onset diabetes mellitus in young
- Germline classification:
- Likely risk allele (1 submission)
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002463616.1
Allele description [Variation Report for NM_000162.5(GCK):c.947T>A (p.Phe316Tyr)]
NM_000162.5(GCK):c.947T>A (p.Phe316Tyr)
Condition(s)
- Name:
- Maturity onset diabetes mellitus in young (MODY)
- Synonyms:
- Mason type diabetes
- Identifiers:
- MONDO: MONDO:0018911; MedGen: C0342276; Orphanet: 552; OMIM: 606391; Human Phenotype Ontology: HP:0004904
-
uncharacterized protein MELLADRAFT_70457 [Melampsora larici-populina 98AG31]
uncharacterized protein MELLADRAFT_70457 [Melampsora larici-populina 98AG31]gi|599353154|ref|XP_007403639.1|Protein
-
LOC110920716 [Helianthus annuus]
LOC110920716 [Helianthus annuus]Gene ID:110920716Gene
-
LOC115161879 [Salmo trutta]
LOC115161879 [Salmo trutta]Gene ID:115161879Gene
-
LOC104780140 [Camelina sativa]
LOC104780140 [Camelina sativa]Gene ID:104780140Gene
-
RAB11FIP5 RAB11 family interacting protein 5 [Bos taurus]
RAB11FIP5 RAB11 family interacting protein 5 [Bos taurus]Gene ID:535992Gene
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See more...Assertion and evidence details
Last Updated: Jul 29, 2023