NM_000162.5(GCK):c.394G>A (p.Asp132Asn) AND Maturity-onset diabetes of the young type 2
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 22, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001249061.5
Allele description [Variation Report for NM_000162.5(GCK):c.394G>A (p.Asp132Asn)]
NM_000162.5(GCK):c.394G>A (p.Asp132Asn)
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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Homo sapiens complement factor H related 3 (CFHR3), transcript variant 1, mRNA
Homo sapiens complement factor H related 3 (CFHR3), transcript variant 1, mRNAgi|1780222577|ref|NM_021023.6|Nucleotide
-
LOC106048383 [Anser cygnoides]
LOC106048383 [Anser cygnoides]Gene ID:106048383Gene
-
HADHA [Nothoprocta perdicaria]
HADHA [Nothoprocta perdicaria]Gene ID:112956290Gene
-
Tomm6 translocase of outer mitochondrial membrane 6 [Mus musculus]
Tomm6 translocase of outer mitochondrial membrane 6 [Mus musculus]Gene ID:66119Gene
-
Ms4a18 membrane-spanning 4-domains, subfamily A, member 18 [Mus musculus]
Ms4a18 membrane-spanning 4-domains, subfamily A, member 18 [Mus musculus]Gene ID:76002Gene
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Last Updated: Jul 29, 2024