NM_001370466.1(NOD2):c.2042G>A (p.Arg681His) AND multiple conditions
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Dec 13, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000638062.8
Allele description
NM_001370466.1(NOD2):c.2042G>A (p.Arg681His)
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
Assertion and evidence details
Last Updated: Jan 21, 2023