NM_000251.3(MSH2):c.1868_1876delinsTA (p.Ala623fs) 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:
- RCV003450089.1
Allele description [Variation Report for NM_000251.3(MSH2):c.1868_1876delinsTA (p.Ala623fs)]
NM_000251.3(MSH2):c.1868_1876delinsTA (p.Ala623fs)
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
-
PPT1 [Tauraco erythrolophus]
PPT1 [Tauraco erythrolophus]Gene ID:104369681Gene
-
AFUA_7G01300 [Aspergillus fumigatus Af293]
AFUA_7G01300 [Aspergillus fumigatus Af293]Gene ID:3504171Gene
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See more...Assertion and evidence details
Last Updated: Jun 9, 2024