NM_001370466.1(NOD2):c.*470C>T AND Blau syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000344166.13
Allele description [Variation Report for NM_001370466.1(NOD2):c.*470C>T]
NM_001370466.1(NOD2):c.*470C>T
Condition(s)
- Name:
- Blau syndrome (BLAUS)
- Synonyms:
- Synovitis granulomatous with uveitis and cranial neuropathies; Arthrocutaneouveal granulomatosis; Granulomatosis, familial, Blau type; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0008523; MedGen: C5201146; Orphanet: 90340; OMIM: 186580
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polyprotein, partial [Hepacivirus hominis]
polyprotein, partial [Hepacivirus hominis]gi|2295813823|gb|UWJ94092.1|Protein
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Homo sapiens cDNA FLJ51987 complete cds, highly similar to Homo sapiens queuine ...
Homo sapiens cDNA FLJ51987 complete cds, highly similar to Homo sapiens queuine tRNA-ribosyltransferase domain containing 1 (QTRTD1), mRNAgi|221041561|dbj|AK296938.1|Nucleotide
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serine/threonine-protein phosphatase BSL3 [Citrus sinensis]
serine/threonine-protein phosphatase BSL3 [Citrus sinensis]gi|568869289|ref|XP_006487860.1|Protein
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Erucic Acids
Erucic Acidscis-13-Docosenoic Acids. 22-Carbon monounsaturated, monocarboxylic acids.<br/>Year introduced: 1991(1975)MeSH
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Last Updated: Oct 8, 2024