NM_000251.3(MSH2):c.1927G>A (p.Glu643Lys) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Oct 31, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000765671.2
Allele description [Variation Report for NM_000251.3(MSH2):c.1927G>A (p.Glu643Lys)]
NM_000251.3(MSH2):c.1927G>A (p.Glu643Lys)
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
- Name:
- Mismatch repair cancer syndrome 1 (MMRCS1)
- Synonyms:
- BRAIN TUMOR-POLYPOSIS SYNDROME 1; BTP1 SYNDROME; CHILDHOOD CANCER SYNDROME; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0010159; MedGen: C5399763; Orphanet: 252202; OMIM: 276300
- Name:
- Muir-Torré syndrome (MRTES)
- Synonyms:
- Muir-Torre syndrome; Cutaneous sebaceous neoplasms and keratoacanthomas multiple with gastrointestinal and other carcinomas; MSH2-Related Muir-Torre Syndrome; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0008018; MedGen: C1321489; Orphanet: 587; OMIM: 158320
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KH-type splicing regulatory protein S homeolog isoform X1 [Xenopus laevis]
KH-type splicing regulatory protein S homeolog isoform X1 [Xenopus laevis]gi|1069302701|ref|XP_018094983.1|Protein
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See more...Assertion and evidence details
Last Updated: Oct 20, 2024