NM_000251.3(MSH2):c.35A>C (p.Glu12Ala) AND Lynch syndrome 1
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Dec 1, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003470713.2
Allele description [Variation Report for NM_000251.3(MSH2):c.35A>C (p.Glu12Ala)]
NM_000251.3(MSH2):c.35A>C (p.Glu12Ala)
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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Homo sapiens G protein subunit alpha transducin 3 (GNAT3), mRNA
Homo sapiens G protein subunit alpha transducin 3 (GNAT3), mRNAgi|1653961635|ref|NM_001102386.3|Nucleotide
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Lgth3 body length 3 [Mus musculus]
Lgth3 body length 3 [Mus musculus]Gene ID:493070Gene
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Homologene neighbors for GEO Profiles (Select 65138584) (0)
GEO Profiles
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Profile neighbors for GEO Profiles (Select 65136442) (200)
GEO Profiles
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PIAS1 protein inhibitor of activated STAT 1 [Homo sapiens]
PIAS1 protein inhibitor of activated STAT 1 [Homo sapiens]Gene ID:8554Gene
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024