NM_000162.5(GCK):c.1144T>C (p.Cys382Arg) AND Maturity onset diabetes mellitus in young
- Germline classification:
- Likely pathogenic (1 submission)
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002463695.1
Allele description [Variation Report for NM_000162.5(GCK):c.1144T>C (p.Cys382Arg)]
NM_000162.5(GCK):c.1144T>C (p.Cys382Arg)
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
-
Rajella barnardi voucher GenMAP DB#1380-075/06 16S ribosomal RNA gene, partial s...
Rajella barnardi voucher GenMAP DB#1380-075/06 16S ribosomal RNA gene, partial sequence; mitochondrialgi|309952848|gb|HM140447.1|Nucleotide
-
Rajella barnardi voucher RA002385 cytochrome oxidase subunit 1 (COI) gene, parti...
Rajella barnardi voucher RA002385 cytochrome oxidase subunit 1 (COI) gene, partial cds; mitochondrialgi|296747323|gnl|uoguelph|ELAME883- I-5P|gb|GU805264.1|Nucleotide
-
LUGEMM14 3-22
LUGEMM14 3-22biosample
-
LUGEMM14 7-63
LUGEMM14 7-63biosample
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Last Updated: May 7, 2024