NM_000057.4(BLM):c.3993A>C (p.Arg1331Ser) AND Hereditary cancer-predisposing syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 9, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004070252.1
Allele description [Variation Report for NM_000057.4(BLM):c.3993A>C (p.Arg1331Ser)]
NM_000057.4(BLM):c.3993A>C (p.Arg1331Ser)
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
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CBWN12316.g1 NICHD_XGC_tropTe1 Xenopus tropicalis cDNA clone IMAGE:8917473 3', m...
CBWN12316.g1 NICHD_XGC_tropTe1 Xenopus tropicalis cDNA clone IMAGE:8917473 3', mRNA sequencegi|133796119|gnl|dbEST|45225723|gb| 763.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: May 7, 2024