NM_000228.3(LAMB3):c.3457C>A (p.Arg1153Ser) AND Inborn genetic diseases
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Feb 23, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003200656.2
Allele description [Variation Report for NM_000228.3(LAMB3):c.3457C>A (p.Arg1153Ser)]
NM_000228.3(LAMB3):c.3457C>A (p.Arg1153Ser)
Condition(s)
- Name:
- Inborn genetic diseases
- Identifiers:
- MeSH: D030342; MedGen: C0950123
-
kin of IRRE-like protein 2 [Sciurus carolinensis]
kin of IRRE-like protein 2 [Sciurus carolinensis]gi|2219453021|ref|XP_047383429.1|Protein
-
RecName: Full=Glycerol-3-phosphate acyltransferase 2, mitochondrial; Short=GPAT-...
RecName: Full=Glycerol-3-phosphate acyltransferase 2, mitochondrial; Short=GPAT-2; AltName: Full=1-acylglycerol-3-phosphate O-acyltransferase GPAT2; AltName: Full=xGPAT1gi|172046129|sp|Q6NUI2.2|GPAT2_HUMAProtein
-
RecName: Full=Interleukin-21; Short=IL-21; AltName: Full=Za11; Flags: Precursor
RecName: Full=Interleukin-21; Short=IL-21; AltName: Full=Za11; Flags: Precursorgi|1613836580|sp|Q9HBE4.3|IL21_HUMAProtein
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Last Updated: May 1, 2024