NM_000249.4(MLH1):c.172T>C (p.Leu58=) AND not specified
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- May 2, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000437520.1
Allele description [Variation Report for NM_000249.4(MLH1):c.172T>C (p.Leu58=)]
NM_000249.4(MLH1):c.172T>C (p.Leu58=)
Condition(s)
- Synonyms:
- AllHighlyPenetrant
- Identifiers:
- MedGen: CN169374
-
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