NM_000251.3(MSH2):c.2055A>G (p.Ile685Met) AND Hereditary cancer-predisposing syndrome
- Germline classification:
- Uncertain significance (2 submissions)
- Last evaluated:
- Sep 2, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001014247.6
Allele description [Variation Report for NM_000251.3(MSH2):c.2055A>G (p.Ile685Met)]
NM_000251.3(MSH2):c.2055A>G (p.Ile685Met)
Condition(s)
- Name:
- Hereditary cancer-predisposing syndrome
- Synonyms:
- Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672
-
Homo sapiens serpin family A member 1 (SERPINA1), transcript variant 3, mRNA
Homo sapiens serpin family A member 1 (SERPINA1), transcript variant 3, mRNAgi|1677499924|ref|NM_001002235.3|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024