NM_000551.4(VHL):c.-1A>G AND Hereditary cancer-predisposing syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Apr 14, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002416559.3
Allele description [Variation Report for NM_000551.4(VHL):c.-1A>G]
NM_000551.4(VHL):c.-1A>G
Condition(s)
- Name:
- Hereditary cancer-predisposing syndrome
- Synonyms:
- Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672
-
RecName: Full=Cysteine protease ATG4B; AltName: Full=AUT-like 1 cysteine endopep...
RecName: Full=Cysteine protease ATG4B; AltName: Full=AUT-like 1 cysteine endopeptidase; AltName: Full=Autophagy-related cysteine endopeptidase 1; Short=Autophagin-1; AltName: Full=Autophagy-related protein 4 homolog B; Short=HsAPG4B; Short=hAPG4Bgi|296434400|sp|Q9Y4P1.2|ATG4B_HUMAProtein
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See more...Assertion and evidence details
Last Updated: May 7, 2024