NM_001048174.2(MUTYH):c.569A>G (p.Tyr190Cys) AND Familial adenomatous polyposis 2
- Germline classification:
- Uncertain significance (3 submissions)
- Last evaluated:
- Aug 15, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000822025.11
Allele description [Variation Report for NM_001048174.2(MUTYH):c.569A>G (p.Tyr190Cys)]
NM_001048174.2(MUTYH):c.569A>G (p.Tyr190Cys)
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
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zinc finger B-box domain-containing protein 1 isoform X7 [Homo sapiens]
zinc finger B-box domain-containing protein 1 isoform X7 [Homo sapiens]gi|2217346118|ref|XP_047304909.1|Protein
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Liver Abscess, Pyogenic
Liver Abscess, PyogenicSingle or multiple areas of PUS due to bacterial infection within the hepatic parenchyma. It can be caused by a variety of BACTERIA, local or disseminated from infections else...<br/>Year introduced: 2005MeSH
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Fascioliasis
FascioliasisLiver disease caused by infections with parasitic flukes of the genus FASCIOLA, such as FASCIOLA HEPATICA.<br/>MeSH
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Protoporphyria, Erythropoietic
Protoporphyria, ErythropoieticAn autosomal dominant porphyria that is due to a deficiency of FERROCHELATASE (heme synthetase) in both the LIVER and the BONE MARROW, the last enzyme in the 8-enzyme biosynth...<br/>Year introduced: 2005MeSH
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Acyl-CoA N-acyltransferase with RING/FYVE/PHD-type zinc finger protein [Zea mays...
Acyl-CoA N-acyltransferase with RING/FYVE/PHD-type zinc finger protein [Zea mays]gi|1142853134|gb|ONM51618.1||gnl|WG Q|ZEAMMB73_Zm00001d018912_1Protein
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Last Updated: Aug 11, 2024