NM_000249.4(MLH1):c.2141G>A (p.Trp714Ter) AND Lynch syndrome 1
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jul 24, 2014
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000144606.1
Allele description [Variation Report for NM_000249.4(MLH1):c.2141G>A (p.Trp714Ter)]
NM_000249.4(MLH1):c.2141G>A (p.Trp714Ter)
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
-
Aldosterone-producing adenoma with seizures and neurological abnormalities
Aldosterone-producing adenoma with seizures and neurological abnormalitiesMedGen
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815939 (1)
MedGen
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Last Updated: Sep 29, 2024