NM_001048174.2(MUTYH):c.1349A>T (p.Gln450Leu) AND Familial adenomatous polyposis 2
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Nov 9, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002299824.4
Allele description [Variation Report for NM_001048174.2(MUTYH):c.1349A>T (p.Gln450Leu)]
NM_001048174.2(MUTYH):c.1349A>T (p.Gln450Leu)
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
-
Prasinoderma coloniale cultivar:CCMP 1413 Pc_2 Resequencing
Prasinoderma coloniale cultivar:CCMP 1413 Pc_2 ResequencingPrasinoderma coloniale CCMP1413 Pc_2 Resequencing genome sequencingBioProject
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024