NM_002834.5(PTPN11):c.397G>A (p.Gly133Ser) AND Cardiovascular phenotype
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jul 31, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002357735.2
Allele description [Variation Report for NM_002834.5(PTPN11):c.397G>A (p.Gly133Ser)]
NM_002834.5(PTPN11):c.397G>A (p.Gly133Ser)
Condition(s)
- Name:
- Cardiovascular phenotype
- Identifiers:
- MedGen: CN230736
-
RecName: Full=Caspase-4; Short=CASP-4; AltName: Full=ICE and Ced-3 homolog 2; Sh...
RecName: Full=Caspase-4; Short=CASP-4; AltName: Full=ICE and Ced-3 homolog 2; Short=ICH-2; AltName: Full=ICE(rel)-II; AltName: Full=Mih1; AltName: Full=Protease TX; Contains: RecName: Full=Caspase-4 subunit p10; Contains: RecName: Full=Caspase-4 subunit p20; Flags: Precursorgi|1812588776|sp|P49662.1|CASP4_HUMProtein
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Last Updated: May 1, 2024