NM_000535.7(PMS2):c.469G>A (p.Val157Ile) AND Lynch syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Apr 3, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004001075.2
Allele description [Variation Report for NM_000535.7(PMS2):c.469G>A (p.Val157Ile)]
NM_000535.7(PMS2):c.469G>A (p.Val157Ile)
Condition(s)
- Name:
- Lynch syndrome
- Identifiers:
- MONDO: MONDO:0005835; MedGen: C4552100
-
Homo sapiens surfactant protein A1 (SFTPA1), transcript variant 4, mRNA
Homo sapiens surfactant protein A1 (SFTPA1), transcript variant 4, mRNAgi|257467614|ref|NM_001164647.1|Nucleotide
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Last Updated: Sep 29, 2024