NM_000057.4(BLM):c.2872G>T (p.Val958Leu) AND Hereditary cancer-predisposing syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Dec 14, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004066078.1
Allele description [Variation Report for NM_000057.4(BLM):c.2872G>T (p.Val958Leu)]
NM_000057.4(BLM):c.2872G>T (p.Val958Leu)
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
-
NP_312706 (1)
Identical Protein Groups
-
Coelorinchus polli voucher CAS:Ich:223427 recombination activating protein 1 (RA...
Coelorinchus polli voucher CAS:Ich:223427 recombination activating protein 1 (RAG1) gene, partial cdsgi|227463499|gb|FJ215223.1|Nucleotide
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Last Updated: Sep 29, 2024