NM_001370466.1(NOD2):c.1066G>A (p.Glu356Lys) AND Blau syndrome
- Germline classification:
- Pathogenic (2 submissions)
- Last evaluated:
- Jun 1, 2005
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000004966.16
Allele description [Variation Report for NM_001370466.1(NOD2):c.1066G>A (p.Glu356Lys)]
NM_001370466.1(NOD2):c.1066G>A (p.Glu356Lys)
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
-
Mus musculus
Mus musculusOsteotropism in breast cancer metastasisBioProject
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Homo sapiens protocadherin beta 1 (PCDHB1), RefSeqGene on chromosome 5
Homo sapiens protocadherin beta 1 (PCDHB1), RefSeqGene on chromosome 5gi|1033120494|ref|NG_050759.1|Nucleotide
-
CBWN10720.b1 NICHD_XGC_tropTe1 Xenopus tropicalis cDNA clone IMAGE:8915778 5', m...
CBWN10720.b1 NICHD_XGC_tropTe1 Xenopus tropicalis cDNA clone IMAGE:8915778 5', mRNA sequencegi|133793934|gnl|dbEST|45223538|gb| 578.1|Nucleotide
-
Homo sapiens tetraspanin 15, mRNA (cDNA clone MGC:4120 IMAGE:2958221), complete ...
Homo sapiens tetraspanin 15, mRNA (cDNA clone MGC:4120 IMAGE:2958221), complete cdsgi|13111968|gb|BC003157.1|Nucleotide
-
Homo sapiens EF-hand domain family, member D2, mRNA (cDNA clone MGC:17894 IMAGE:...
Homo sapiens EF-hand domain family, member D2, mRNA (cDNA clone MGC:17894 IMAGE:3909362), complete cdsgi|34782922|gb|BC014923.2|Nucleotide
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Last Updated: Oct 20, 2024