NM_003824.4(FADD):c.6C>T (p.Asp2=) AND FADD-related immunodeficiency
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Nov 26, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001479154.7
Allele description [Variation Report for NM_003824.4(FADD):c.6C>T (p.Asp2=)]
NM_003824.4(FADD):c.6C>T (p.Asp2=)
Condition(s)
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RecName: Full=Arginine biosynthesis bifunctional protein ArgJ; Includes: RecName...
RecName: Full=Arginine biosynthesis bifunctional protein ArgJ; Includes: RecName: Full=Glutamate N-acetyltransferase; AltName: Full=Ornithine acetyltransferase; Short=OATase; AltName: Full=Ornithine transacetylase; Includes: RecName: Full=Amino-acid acetyltransferase; AltName: Full=N-acetylglutamate synthase; Short=AGSase; Contains: RecName: Full=Arginine biosynthesis bifunctional protein ArgJ alpha chain; Contains: RecName: Full=Arginine biosynthesis bifunctional protein ArgJ beta chaingi|30172800|sp|P96426.1|ARGJ_RHOFAProtein
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N-acetylglutamate synthase / glutamate N-acetyltransferase [Anaeromyxobacter deh...
N-acetylglutamate synthase / glutamate N-acetyltransferase [Anaeromyxobacter dehalogenans 2CP-C]gi|86157582|gnl|REF_jgi|Adeh_1156|r _464367.1|Protein
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paired box protein Pax-2 isoform e [Homo sapiens]
paired box protein Pax-2 isoform e [Homo sapiens]gi|1003701517|ref|NP_003981.3|Protein
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Homo sapiens coiled-coil domain containing 179 (CCDC179), mRNA
Homo sapiens coiled-coil domain containing 179 (CCDC179), mRNAgi|1653961442|ref|NM_001195637.2|Nucleotide
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Acropora millepora isolate:SF001
Acropora millepora isolate:SF001Acropora millepora isolate:SF001 RefSeq Genome sequencing and assemblyBioProject
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Last Updated: Sep 29, 2024