NM_000251.3(MSH2):c.2420del (p.Thr807fs) AND Lynch syndrome 1
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Aug 8, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003455470.1
Allele description [Variation Report for NM_000251.3(MSH2):c.2420del (p.Thr807fs)]
NM_000251.3(MSH2):c.2420del (p.Thr807fs)
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
-
18552d1a-fc74-455a-8eb1-0d4e650c01ca-dtol
18552d1a-fc74-455a-8eb1-0d4e650c01ca-dtolbiosample
-
97b95a21-8c87-4db1-9922-918ebe42669a-dtol
97b95a21-8c87-4db1-9922-918ebe42669a-dtolbiosample
-
Benign Mixed Epithelial and Mesenchymal Hair Follicle Neoplasm
Benign Mixed Epithelial and Mesenchymal Hair Follicle NeoplasmMedGen
-
Perifollicular fibroma
Perifollicular fibromaMedGen
-
Pilar sheath acanthoma
Pilar sheath acanthomaMedGen
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See more...Assertion and evidence details
Last Updated: Jun 9, 2024