NM_001370466.1(NOD2):c.1950C>G (p.Phe650Leu) AND Autoinflammatory syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Dec 23, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002261420.10
Allele description [Variation Report for NM_001370466.1(NOD2):c.1950C>G (p.Phe650Leu)]
NM_001370466.1(NOD2):c.1950C>G (p.Phe650Leu)
Condition(s)
- Name:
- Autoinflammatory syndrome
- Identifiers:
- MONDO: MONDO:0019751; MedGen: C3890737
-
RecName: Full=FHF complex subunit HOOK interacting protein 2A; Short=FHIP2A
RecName: Full=FHF complex subunit HOOK interacting protein 2A; Short=FHIP2Agi|74747988|sp|Q5W0V3.1|FHI2A_HUMANProtein
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See more...Assertion and evidence details
Last Updated: Oct 13, 2024