NM_000249.4(MLH1):c.2219del (p.Ile740fs) AND Hereditary nonpolyposis colorectal neoplasms
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Aug 4, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002550799.3
Allele description [Variation Report for NM_000249.4(MLH1):c.2219del (p.Ile740fs)]
NM_000249.4(MLH1):c.2219del (p.Ile740fs)
Condition(s)
- Name:
- Hereditary nonpolyposis colorectal neoplasms
- Identifiers:
- MeSH: D003123; MedGen: C0009405
-
cytochrome oxidase subunit 1, partial (mitochondrion) [Platygastridae sp. BIOUG2...
cytochrome oxidase subunit 1, partial (mitochondrion) [Platygastridae sp. BIOUG20492-A08]gi|1578801652|gb|QBF43316.1|Protein
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024