NM_000162.5(GCK):c.524G>A (p.Gly175Glu) AND Monogenic diabetes
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Feb 23, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003883198.1
Allele description [Variation Report for NM_000162.5(GCK):c.524G>A (p.Gly175Glu)]
NM_000162.5(GCK):c.524G>A (p.Gly175Glu)
Condition(s)
- Name:
- Monogenic diabetes
- Identifiers:
- MONDO: MONDO:0015967; MedGen: C3888631
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H.sapiens mRNA for protein kinase C-Epsilon
H.sapiens mRNA for protein kinase C-Epsilongi|35494|emb|X65293.1|Nucleotide
-
Myriangium haraeanum culture CBS:300.34 strain CBS 300.34 small subunit ribosoma...
Myriangium haraeanum culture CBS:300.34 strain CBS 300.34 small subunit ribosomal RNA gene, partial sequence; internal transcribed spacer 1, 5.8S ribosomal RNA gene, and internal transcribed spacer 2, complete sequence; and large subunit ribosomal RNA gene, partial sequencegi|1473242588|gb|MH855532.1|Nucleotide
-
LOC127459698 [Homo sapiens]
LOC127459698 [Homo sapiens]Gene ID:127459698Gene
-
MTND4P39 MT-ND4 pseudogene 39 [Homo sapiens]
MTND4P39 MT-ND4 pseudogene 39 [Homo sapiens]Gene ID:112163524Gene
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See more...Assertion and evidence details
Last Updated: May 1, 2024