NM_001243133.2(NLRP3):c.1431C>A (p.Asn477Lys) AND Familial cold autoinflammatory syndrome 1
- Germline classification:
- not provided (1 submission)
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000084191.2
Allele description [Variation Report for NM_001243133.2(NLRP3):c.1431C>A (p.Asn477Lys)]
NM_001243133.2(NLRP3):c.1431C>A (p.Asn477Lys)
Condition(s)
-
WW domain-containing adapter protein with coiled-coil isoform X9 [Homo sapiens]
WW domain-containing adapter protein with coiled-coil isoform X9 [Homo sapiens]gi|2217277455|ref|XP_047281265.1|Protein
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See more...Assertion and evidence details
Last Updated: Jun 23, 2024