NM_000465.4(BARD1):c.1973G>A (p.Arg658His) AND Hereditary cancer-predisposing syndrome
- Germline classification:
- Conflicting interpretations of pathogenicity (3 submissions)
- Last evaluated:
- Dec 28, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000223283.10
Allele description [Variation Report for NM_000465.4(BARD1):c.1973G>A (p.Arg658His)]
NM_000465.4(BARD1):c.1973G>A (p.Arg658His)
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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Etmopterus brosei isolate GN19169 tRNA-Phe gene, partial sequence; 12S ribosomal RNA and tRNA-Val genes, complete sequence; and 16S ribosomal RNA gene, partial sequence; mitochondrialgi|2260973942|gb|ON185629.1|Nucleotide
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Trip_A549_H2AZ_CnT
Trip_A549_H2AZ_CnTbiosample
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Homo sapiens melatonin receptor 1A, mRNA (cDNA clone MGC:161575 IMAGE:8992013), complete cdsgi|116496862|gb|BC126297.1|Nucleotide
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RecName: Full=Large ribosomal subunit protein uL13m; AltName: Full=39S ribosomal protein L13, mitochondrial; Short=L13mt; Short=MRP-L13gi|22257024|sp|Q9D1P0.1|RM13_MOUSEProtein
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See more...Assertion and evidence details
Last Updated: Oct 13, 2024