NM_000251.3(MSH2):c.1811C>A (p.Ala604Asp) AND Lynch syndrome 1
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Aug 3, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003455922.1
Allele description [Variation Report for NM_000251.3(MSH2):c.1811C>A (p.Ala604Asp)]
NM_000251.3(MSH2):c.1811C>A (p.Ala604Asp)
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
-
PREDICTED: mitochondrial carnitine/acylcarnitine carrier protein [Dinoponera qua...
PREDICTED: mitochondrial carnitine/acylcarnitine carrier protein [Dinoponera quadriceps]gi|951523163|ref|XP_014488427.1|Protein
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Last Updated: Jun 9, 2024