NM_000251.3(MSH2):c.2090G>A (p.Cys697Tyr) AND Lynch syndrome 1
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Mar 9, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000490613.2
Allele description [Variation Report for NM_000251.3(MSH2):c.2090G>A (p.Cys697Tyr)]
NM_000251.3(MSH2):c.2090G>A (p.Cys697Tyr)
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 testis development protein NYD-SP26 (NYD-SP26), mRNA
Homo sapiens testis development protein NYD-SP26 (NYD-SP26), mRNAgi|14916450|ref|NM_033122.1|Nucleotide
-
Homo sapiens small nucleolar RNA, C/D box 116-23 (SNORD116-23), small nucleolar ...
Homo sapiens small nucleolar RNA, C/D box 116-23 (SNORD116-23), small nucleolar RNAgi|134032038|ref|NR_003337.2|Nucleotide
-
Lophotus capellei 16S ribosomal RNA gene, mitochondrial gene for mitochondrial R...
Lophotus capellei 16S ribosomal RNA gene, mitochondrial gene for mitochondrial RNA, partial sequencegi|4321433|gb|AF049737.1|Nucleotide
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Last Updated: Jun 9, 2024