NM_000251.3(MSH2):c.1867G>A (p.Ala623Thr) AND Hereditary nonpolyposis colorectal neoplasms
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Feb 11, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001347002.7
Allele description [Variation Report for NM_000251.3(MSH2):c.1867G>A (p.Ala623Thr)]
NM_000251.3(MSH2):c.1867G>A (p.Ala623Thr)
Condition(s)
- Name:
- Hereditary nonpolyposis colorectal neoplasms
- Identifiers:
- MeSH: D003123; MedGen: C0009405
-
Taxonomy Links for Nucleotide (Select 401709991) (1)
Taxonomy
-
RecName: Full=Guanylate-binding protein 1; AltName: Full=GTP-binding protein 1; ...
RecName: Full=Guanylate-binding protein 1; AltName: Full=GTP-binding protein 1; Short=GBP-1; Short=mGBP-1; Short=mGBP1; AltName: Full=Guanine nucleotide-binding protein 1; AltName: Full=Interferon-gamma-inducible protein MAG-1; AltName: Full=Interferon-induced guanylate-binding protein 1; Flags: Precursorgi|400217|sp|Q01514.1|GBP1_MOUSEProtein
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024