NM_001243133.2(NLRP3):c.169A>G (p.Ile57Val) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Feb 9, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002506769.1
Allele description [Variation Report for NM_001243133.2(NLRP3):c.169A>G (p.Ile57Val)]
NM_001243133.2(NLRP3):c.169A>G (p.Ile57Val)
Condition(s)
- Name:
- Chronic infantile neurological, cutaneous and articular syndrome (CINCA)
- Synonyms:
- CHRONIC NEUROLOGIC CUTANEOUS AND ARTICULAR SYNDROME; Chronic Infantile Neurological Cutaneous Articular syndrome; Infantile Onset Multisystem Inflammatory Disease; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0011776; MedGen: C0409818; Orphanet: 1451; OMIM: 607115
- Name:
- Keratitis fugax hereditaria
- Synonyms:
- KERATOENDOTHELIITIS FUGAX HEREDITARIA
- Identifiers:
- MONDO: MONDO:0007849; MedGen: C1835697; OMIM: 148200
- Name:
- Familial amyloid nephropathy with urticaria AND deafness (MWS)
- Synonyms:
- Urticaria, deafness and amyloidosis; Urticaria-deafness-amyloidosis syndrome; UDA syndrome; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0008633; MedGen: C0268390; Orphanet: 575; OMIM: 191900
-
tetra-peptide repeat homeobox protein 1 isoform 2 [Homo sapiens]
tetra-peptide repeat homeobox protein 1 isoform 2 [Homo sapiens]gi|2066301174|ref|NP_940881.3|Protein
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Alcanivorax dieselolei strain S16-10 cytochrome P450 CYP153A (P450) gene, partia...
Alcanivorax dieselolei strain S16-10 cytochrome P450 CYP153A (P450) gene, partial cdsgi|222840279|gb|FJ647029.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Jul 15, 2024