NM_001370466.1(NOD2):c.2957T>C (p.Ile986Thr) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 13, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002550423.9
Allele description [Variation Report for NM_001370466.1(NOD2):c.2957T>C (p.Ile986Thr)]
NM_001370466.1(NOD2):c.2957T>C (p.Ile986Thr)
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
- Name:
- Regional enteritis
- Synonyms:
- Enteritis, Granulomatous
- Identifiers:
- MeSH: D003424; MedGen: C0678202
-
Alpha-maltose-1-phosphate synthase (plasmid) [Lactiplantibacillus plantarum]
Alpha-maltose-1-phosphate synthase (plasmid) [Lactiplantibacillus plantarum]gi|1799538401|gnl|PRJNA438180|C7M47 0|gb|QHM64245.1|Protein
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Sporidesmiella novae-zelandiae strain S-1256 large subunit ribosomal RNA gene, p...
Sporidesmiella novae-zelandiae strain S-1256 large subunit ribosomal RNA gene, partial sequencegi|1625649245|gb|MK849845.1|Nucleotide
-
Dictyosporella thailandensis strain MFLUCC 15-0985 18S ribosomal RNA gene, parti...
Dictyosporella thailandensis strain MFLUCC 15-0985 18S ribosomal RNA gene, partial sequence; internal transcribed spacer 1, 5.8S ribosomal RNA gene, and internal transcribed spacer 2, complete sequence; and 28S ribosomal RNA gene, partial sequencegi|1241870559|gb|MF374355.1|Nucleotide
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Sporidesmiella aquatica voucher MFLU:18-2331 RNA polymerase II subunit 2 (rpb2) ...
Sporidesmiella aquatica voucher MFLU:18-2331 RNA polymerase II subunit 2 (rpb2) gene, partial cdsgi|1710738094|gb|MN124524.1|Nucleotide
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Sporidesmiella sp. voucher JAUCC3436 internal transcribed spacer 1, partial sequ...
Sporidesmiella sp. voucher JAUCC3436 internal transcribed spacer 1, partial sequence; 5.8S ribosomal RNA gene and internal transcribed spacer 2, complete sequence; and large subunit ribosomal RNA gene, partial sequencegi|2071353035|gb|MZ613187.1|Nucleotide
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Last Updated: Sep 8, 2024