NM_000162.5(GCK):c.1190G>A (p.Arg397His) AND Maturity-onset diabetes of the young type 2
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Sep 8, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003330326.1
Allele description [Variation Report for NM_000162.5(GCK):c.1190G>A (p.Arg397His)]
NM_000162.5(GCK):c.1190G>A (p.Arg397His)
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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PREDICTED: Mus musculus neurexin III (Nrxn3), transcript variant X39, mRNA
PREDICTED: Mus musculus neurexin III (Nrxn3), transcript variant X39, mRNAgi|1039739913|ref|XM_017314985.1|Nucleotide
-
Oryza sativa genome assembly, organelle: plastid:chloroplast
Oryza sativa genome assembly, organelle: plastid:chloroplastgi|2126712232|emb|HG997588.1|Nucleotide
-
Listeria monocytogenes strain Lm41 contig000024, whole genome shotgun sequence
Listeria monocytogenes strain Lm41 contig000024, whole genome shotgun sequencegi|1059928486|ref|NZ_MDPM01000024.1 |WGS:NZ_MDPM01|contig000024Nucleotide
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See more...Assertion and evidence details
Last Updated: May 7, 2024