NM_000535.7(PMS2):c.1113T>C (p.Asn371=) AND Lynch syndrome
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Oct 23, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004000892.2
Allele description [Variation Report for NM_000535.7(PMS2):c.1113T>C (p.Asn371=)]
NM_000535.7(PMS2):c.1113T>C (p.Asn371=)
Condition(s)
- Name:
- Lynch syndrome
- Identifiers:
- MONDO: MONDO:0005835; MedGen: C4552100
-
RecName: Full=Ubiquitin-like-conjugating enzyme ATG3; AltName: Full=Autophagy-re...
RecName: Full=Ubiquitin-like-conjugating enzyme ATG3; AltName: Full=Autophagy-related protein 3; Short=APG3-like; Short=hApg3; AltName: Full=Protein PC3-96gi|61212142|sp|Q9NT62.1|ATG3_HUMANProtein
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024