NM_001048174.2(MUTYH):c.1545C>T (p.Ser515=) AND Familial adenomatous polyposis 2
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jun 14, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001399666.14
Allele description [Variation Report for NM_001048174.2(MUTYH):c.1545C>T (p.Ser515=)]
NM_001048174.2(MUTYH):c.1545C>T (p.Ser515=)
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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RecName: Full=Dipeptidyl peptidase 4; AltName: Full=Dipeptidyl peptidase IV; Sho...
RecName: Full=Dipeptidyl peptidase 4; AltName: Full=Dipeptidyl peptidase IV; Short=DPP IV; AltName: Full=T-cell activation antigen CD26; AltName: Full=Thymocyte-activating molecule; Short=THAM; AltName: CD_antigen=CD26; Contains: RecName: Full=Dipeptidyl peptidase 4 membrane form; AltName: Full=Dipeptidyl peptidase IV membrane form; Contains: RecName: Full=Dipeptidyl peptidase 4 soluble form; AltName: Full=Dipeptidyl peptidase IV soluble formgi|1352312|sp|P28843.3|DPP4_MOUSEProtein
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Methylobacterium phyllostachyos NBRC 105206
Methylobacterium phyllostachyos NBRC 105206biosample
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See more...Assertion and evidence details
Last Updated: Oct 13, 2024