NM_001243133.2(NLRP3):c.1639A>T (p.Ser547Cys) AND NLRP3-related disorder
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Feb 14, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004544870.2
Allele description [Variation Report for NM_001243133.2(NLRP3):c.1639A>T (p.Ser547Cys)]
NM_001243133.2(NLRP3):c.1639A>T (p.Ser547Cys)
Condition(s)
- Name:
- NLRP3-related disorder
- Synonyms:
- NLRP3-related condition
- Identifiers:
-
0e786b96-d291-4e52-aad9-46b4fcf99dd6-DTOL-specimen
0e786b96-d291-4e52-aad9-46b4fcf99dd6-DTOL-specimenbiosample
-
DUSP5P1 dual specificity phosphatase 5 pseudogene 1 [Homo sapiens]
DUSP5P1 dual specificity phosphatase 5 pseudogene 1 [Homo sapiens]Gene ID:574029Gene
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See more...Assertion and evidence details
Last Updated: Oct 8, 2024