NM_000249.4(MLH1):c.2157T>G (p.Ile719Met) AND Hereditary nonpolyposis colorectal neoplasms
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 27, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001361331.2
Allele description [Variation Report for NM_000249.4(MLH1):c.2157T>G (p.Ile719Met)]
NM_000249.4(MLH1):c.2157T>G (p.Ile719Met)
Condition(s)
- Name:
- Hereditary nonpolyposis colorectal neoplasms
- Identifiers:
- MeSH: D003123; MedGen: C0009405
-
MAG: pyrroline-5-carboxylate reductase [Dehalococcoidia bacterium]
MAG: pyrroline-5-carboxylate reductase [Dehalococcoidia bacterium]gi|1247518157|gb|PCJ73916.1||gnl|WG X|COA56_13545Protein
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See more...Assertion and evidence details
Last Updated: Dec 24, 2023