NM_001048174.2(MUTYH):c.1546C>G (p.Leu516Val) AND Familial adenomatous polyposis 2
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 9, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001992741.5
Allele description [Variation Report for NM_001048174.2(MUTYH):c.1546C>G (p.Leu516Val)]
NM_001048174.2(MUTYH):c.1546C>G (p.Leu516Val)
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
-
maturase K, partial (chloroplast) [Aquilegia einseleana]
maturase K, partial (chloroplast) [Aquilegia einseleana]gi|209489536|gb|ACI49275.1|Protein
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Jun 23, 2024