NM_000535.7(PMS2):c.25A>G (p.Thr9Ala) AND Hereditary cancer-predisposing syndrome
- Germline classification:
- Uncertain significance (2 submissions)
- Last evaluated:
- Nov 10, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000165164.7
Allele description [Variation Report for NM_000535.7(PMS2):c.25A>G (p.Thr9Ala)]
NM_000535.7(PMS2):c.25A>G (p.Thr9Ala)
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 tRNA methyltransferase 2 homolog B (TRMT2B), transcript variant 2, ...
Homo sapiens tRNA methyltransferase 2 homolog B (TRMT2B), transcript variant 2, mRNAgi|1890346385|ref|NM_001167970.2|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024