NM_001048174.2(MUTYH):c.914C>T (p.Ala305Val) AND Familial adenomatous polyposis 2
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Apr 25, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001298855.6
Allele description
NM_001048174.2(MUTYH):c.914C>T (p.Ala305Val)
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
-
biotinidase isoform 1 precursor [Homo sapiens]
biotinidase isoform 1 precursor [Homo sapiens]gi|2247445842|ref|NP_001394295.1|Protein
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Last Updated: Aug 11, 2024