NM_000251.3(MSH2):c.129T>C (p.Tyr43=) AND Lynch syndrome
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Mar 7, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004003470.2
Allele description [Variation Report for NM_000251.3(MSH2):c.129T>C (p.Tyr43=)]
NM_000251.3(MSH2):c.129T>C (p.Tyr43=)
Condition(s)
- Name:
- Lynch syndrome
- Identifiers:
- MONDO: MONDO:0005835; MedGen: C4552100
-
Homo sapiens plakophilin 2 (PKP2), transcript variant 2a, mRNA
Homo sapiens plakophilin 2 (PKP2), transcript variant 2a, mRNAgi|1779260915|ref|NM_001005242.3|Nucleotide
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Sep 29, 2024