NM_000251.3(MSH2):c.408del (p.Phe136fs) AND Lynch syndrome 1
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jul 27, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003452939.1
Allele description [Variation Report for NM_000251.3(MSH2):c.408del (p.Phe136fs)]
NM_000251.3(MSH2):c.408del (p.Phe136fs)
Condition(s)
- Name:
- Lynch syndrome 1
- Synonyms:
- COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 1; MSH2-Related Hereditary Non-Polyposis Colon Cancer; Lynch syndrome I; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0007356; MedGen: C2936783; Orphanet: 144; OMIM: 120435
-
BioProject Links for Nucleotide (Select 1861956409) (1)
BioProject
-
Taxonomy Links for Protein (Select 1072800300) (1)
Taxonomy
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: May 7, 2024