NM_005068.3(SIM1):c.1649G>A (p.Arg550His) AND Monogenic diabetes
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Oct 26, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001174378.2
Allele description [Variation Report for NM_005068.3(SIM1):c.1649G>A (p.Arg550His)]
NM_005068.3(SIM1):c.1649G>A (p.Arg550His)
Condition(s)
- Name:
- Monogenic diabetes
- Identifiers:
- MONDO: MONDO:0015967; MedGen: C3888631
-
PREDICTED: Homo sapiens protein O-mannosyltransferase 2 (POMT2), transcript vari...
PREDICTED: Homo sapiens protein O-mannosyltransferase 2 (POMT2), transcript variant X5, mRNAgi|2217297251|ref|XM_047431315.1|Nucleotide
-
protein O-mannosyl-transferase 2 isoform X3 [Homo sapiens]
protein O-mannosyl-transferase 2 isoform X3 [Homo sapiens]gi|2462539965|ref|XP_054231899.1|Protein
-
PREDICTED: Cuculus canorus Pulmonary surfactant-associated protein A (SFTPA), mR...
PREDICTED: Cuculus canorus Pulmonary surfactant-associated protein A (SFTPA), mRNAgi|2452607444|ref|XM_009565203.2|Nucleotide
-
RecName: Full=Protein HGH1 homolog
RecName: Full=Protein HGH1 homologgi|82183099|sp|Q6DGR4.1|HGH1_DANREProtein
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Last Updated: Sep 16, 2024