NM_000251.3(MSH2):c.2068C>A (p.Gln690Lys) AND Lynch syndrome 1
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Aug 7, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003454322.1
Allele description [Variation Report for NM_000251.3(MSH2):c.2068C>A (p.Gln690Lys)]
NM_000251.3(MSH2):c.2068C>A (p.Gln690Lys)
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
-
Homo sapiens tudor domain containing 12 (TDRD12), transcript variant 2, mRNA
Homo sapiens tudor domain containing 12 (TDRD12), transcript variant 2, mRNAgi|1677538537|ref|NM_001110822.2|Nucleotide
-
cytokinin hydroxylase-like [Benincasa hispida]
cytokinin hydroxylase-like [Benincasa hispida]gi|1955820588|ref|XP_038905687.1|Protein
-
Mus musculus RIKEN cDNA 2410022L05 gene (2410022L05Rik), mRNA
Mus musculus RIKEN cDNA 2410022L05 gene (2410022L05Rik), mRNAgi|141802113|ref|NM_025556.2|Nucleotide
-
20864[uid] AND (alive[prop]) (0)
Gene
-
BX720692 XGC-tadpole Xenopus tropicalis cDNA clone TTpA062c09 5', mRNA sequence
BX720692 XGC-tadpole Xenopus tropicalis cDNA clone TTpA062c09 5', mRNA sequencegi|38393433|gnl|dbEST|20437826|emb| 692.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Jun 9, 2024