NM_000057.4(BLM):c.3930T>G (p.Ser1310Arg) AND Hereditary cancer-predisposing syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Feb 25, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002374537.3
Allele description [Variation Report for NM_000057.4(BLM):c.3930T>G (p.Ser1310Arg)]
NM_000057.4(BLM):c.3930T>G (p.Ser1310Arg)
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
-
PDE9A [Suncus etruscus]
PDE9A [Suncus etruscus]Gene ID:126025637Gene
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See more...Assertion and evidence details
Last Updated: May 1, 2024