NM_000535.7(PMS2):c.138T>G (p.Ser46Arg) AND Hereditary cancer-predisposing syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 16, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002396661.2
Allele description [Variation Report for NM_000535.7(PMS2):c.138T>G (p.Ser46Arg)]
NM_000535.7(PMS2):c.138T>G (p.Ser46Arg)
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
-
meiosis regulator and mRNA stability factor 1 isoform 3 [Homo sapiens]
meiosis regulator and mRNA stability factor 1 isoform 3 [Homo sapiens]gi|297206754|ref|NP_001171928.1|Protein
-
Mus musculus Hus1 homolog (S. pombe) (Hus1), mRNA
Mus musculus Hus1 homolog (S. pombe) (Hus1), mRNAgi|142352788|ref|NM_008316.3|Nucleotide
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See more...Assertion and evidence details
Last Updated: May 1, 2024