NM_000251.3(MSH2):c.876dup (p.Thr293fs) AND Lynch syndrome 1
- Germline classification:
- Pathogenic (2 submissions)
- Last evaluated:
- Jul 28, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003449214.2
Allele description [Variation Report for NM_000251.3(MSH2):c.876dup (p.Thr293fs)]
NM_000251.3(MSH2):c.876dup (p.Thr293fs)
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
-
Homo sapiens chromosome 19 clone CTB-25J19, complete sequence
Homo sapiens chromosome 19 clone CTB-25J19, complete sequencegi|26023954|gnl|lanlchgs|25J19|gb|A 06.7|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024