NM_000251.3(MSH2):c.1933del (p.Gln645fs) AND Lynch syndrome 1
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Aug 4, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003450189.1
Allele description [Variation Report for NM_000251.3(MSH2):c.1933del (p.Gln645fs)]
NM_000251.3(MSH2):c.1933del (p.Gln645fs)
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
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Astrophyton muricatum isolate 445.1E large subunit ribosomal RNA gene, partial s...
Astrophyton muricatum isolate 445.1E large subunit ribosomal RNA gene, partial sequence; mitochondrialgi|1005665147|gb|KU672426.1|Nucleotide
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2911110[uid] (1)
Taxonomy
-
1677680[uid] (1)
Taxonomy
-
28815[uid] (1)
Taxonomy
-
Homo sapiens potassium channel tetramerization domain containing 6 (KCTD6), tran...
Homo sapiens potassium channel tetramerization domain containing 6 (KCTD6), transcript variant 2, mRNAgi|1519314753|ref|NM_001128214.2|Nucleotide
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See more...Assertion and evidence details
Last Updated: Jun 9, 2024