NM_000251.3(MSH2):c.680_683del (p.Arg227fs) AND Lynch syndrome 1
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jul 27, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003449350.1
Allele description [Variation Report for NM_000251.3(MSH2):c.680_683del (p.Arg227fs)]
NM_000251.3(MSH2):c.680_683del (p.Arg227fs)
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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maltose alpha-D-glucosyltransferase [Azospirillum brasilense]
maltose alpha-D-glucosyltransferase [Azospirillum brasilense]gi|1634044643|gnl|PRJNA490424|D3868 5|gb|QCO08115.1|Protein
-
maltose alpha-D-glucosyltransferase [Xanthomonas citri pv. citri]
maltose alpha-D-glucosyltransferase [Xanthomonas citri pv. citri]gi|2075419650|gnl|BCGABRC|HZS91_001 |QYF33541.1|Protein
-
maltose alpha-D-glucosyltransferase [Streptomyces sp. SM17]
maltose alpha-D-glucosyltransferase [Streptomyces sp. SM17]gi|1390416273|gnl|PRJNA384120|B9S66 5|gb|AWL34831.1|Protein
-
maltose alpha-D-glucosyltransferase [Pseudomonas corrugata]
maltose alpha-D-glucosyltransferase [Pseudomonas corrugata]gi|2019157206|gnl|PRJNA433078|C4C32 5|gb|QTH16343.1|Protein
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See more...Assertion and evidence details
Last Updated: Jun 9, 2024