NM_000038.5(APC):c.249delT (p.Gly84Glufs) AND Familial adenomatous polyposis 1
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Sep 30, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000232213.2
Allele description
NM_000038.5(APC):c.249delT (p.Gly84Glufs)
Condition(s)
- Name:
- Familial adenomatous polyposis 1 (FAP1)
- Synonyms:
- Familial Adenomatous Polyposis; POLYPOSIS, ADENOMATOUS INTESTINAL; FAMILIAL ADENOMATOUS POLYPOSIS 1, ATTENUATED; See all synonyms [MedGen]
- Identifiers:
- MedGen: C2713442; OMIM: 175100
Assertion and evidence details
Last Updated: May 12, 2018