NM_000251.3(MSH2):c.1763_1764del (p.Tyr588fs) AND Lynch syndrome 1
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Apr 2, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001310201.1
Allele description [Variation Report for NM_000251.3(MSH2):c.1763_1764del (p.Tyr588fs)]
NM_000251.3(MSH2):c.1763_1764del (p.Tyr588fs)
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
-
HNH endonuclease [Bacillus phage 250]
HNH endonuclease [Bacillus phage 250]gi|971766641|ref|YP_009219589.1|Protein
-
globin-coupled sensor protein [Shinella oryzae]
globin-coupled sensor protein [Shinella oryzae]gi|2225494931|gnl|PRJNA756894|K6301 0|gb|UPA23937.1|Protein
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See more...Assertion and evidence details
Last Updated: Jun 9, 2024