NM_000249.4(MLH1):c.1783A>C (p.Ser595Arg) AND Hereditary nonpolyposis colorectal neoplasms
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jul 29, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001321342.4
Allele description [Variation Report for NM_000249.4(MLH1):c.1783A>C (p.Ser595Arg)]
NM_000249.4(MLH1):c.1783A>C (p.Ser595Arg)
Condition(s)
- Name:
- Hereditary nonpolyposis colorectal neoplasms
- Identifiers:
- MeSH: D003123; MedGen: C0009405
-
transcription factor NF-E2 45 kDa subunit isoform 1 [Homo sapiens]
transcription factor NF-E2 45 kDa subunit isoform 1 [Homo sapiens]gi|5453774|ref|NP_006154.1|Protein
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Last Updated: Sep 29, 2024