NM_001048174.2(MUTYH):c.115+12G>C AND Familial adenomatous polyposis 2
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Aug 13, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002219438.5
Allele description [Variation Report for NM_001048174.2(MUTYH):c.115+12G>C]
NM_001048174.2(MUTYH):c.115+12G>C
Condition(s)
- Name:
- Familial adenomatous polyposis 2
- Synonyms:
- COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE; ADENOMAS, MULTIPLE COLORECTAL, AUTOSOMAL RECESSIVE; MYH-associated polyposis; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0012041; MedGen: C3272841; Orphanet: 220460; OMIM: 608456
-
RecName: Full=Endogenous retrovirus group K member 24 Pro protein; AltName: Full...
RecName: Full=Endogenous retrovirus group K member 24 Pro protein; AltName: Full=HERV-K101 envelope protein; AltName: Full=HERV-K_22q11.21 provirus ancestral Pro protein; AltName: Full=Protease; AltName: Full=Proteinase; Short=PRgi|52000858|sp|P63129.1|VPK24_HUMANProtein
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See more...Assertion and evidence details
Last Updated: Feb 20, 2024