NM_000251.3(MSH2):c.2134G>A (p.Val712Ile) AND Lynch syndrome 1
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 19, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003461341.2
Allele description [Variation Report for NM_000251.3(MSH2):c.2134G>A (p.Val712Ile)]
NM_000251.3(MSH2):c.2134G>A (p.Val712Ile)
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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Acknowledgments - Drug Therapy for Early Rheumatoid Arthritis: A Systematic Revi...
Acknowledgments - Drug Therapy for Early Rheumatoid Arthritis: A Systematic Review Update
-
21420[uid] AND (alive[prop]) (1)
Gene
-
Tfap2c transcription factor AP-2, gamma [Mus musculus]
Tfap2c transcription factor AP-2, gamma [Mus musculus]Gene ID:21420Gene
-
BioSample links for Nucleotide (Select 745691296) (1)
BioSample
-
Microbe sample from Lactobacillus sp. FMNP02
Microbe sample from Lactobacillus sp. FMNP02biosample
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Last Updated: Jun 17, 2024