NM_001370466.1(NOD2):c.2253G>C (p.Glu751Asp) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Sep 12, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003010089.2
Allele description
NM_001370466.1(NOD2):c.2253G>C (p.Glu751Asp)
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
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cytochrome b, partial (mitochondrion) [Plasmodium cf. malariae]
cytochrome b, partial (mitochondrion) [Plasmodium cf. malariae]gi|317408879|gb|ADV17849.1|Protein
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cytochrome b (mitochondrion) [Plasmodium cf. malariae]
cytochrome b (mitochondrion) [Plasmodium cf. malariae]gi|1818990634|gb|QII18546.1|Protein
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Polydactyly, postaxial, type a7
Polydactyly, postaxial, type a7MedGen
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See more...Assertion and evidence details
Last Updated: Feb 28, 2024