NM_000465.4(BARD1):c.539A>G (p.Tyr180Cys) AND Hereditary cancer-predisposing syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- May 30, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000570965.5
Allele description [Variation Report for NM_000465.4(BARD1):c.539A>G (p.Tyr180Cys)]
NM_000465.4(BARD1):c.539A>G (p.Tyr180Cys)
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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little elongation complex subunit 2 isoform X4 [Homo sapiens]
little elongation complex subunit 2 isoform X4 [Homo sapiens]gi|2217302575|ref|XP_047288988.1|Protein
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Homo sapiens ATP binding cassette subfamily C member 5 (ABCC5), transcript varia...
Homo sapiens ATP binding cassette subfamily C member 5 (ABCC5), transcript variant 3, mRNAgi|1675124450|ref|NM_001320032.2|Nucleotide
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PREDICTED: Homo sapiens interactor of little elongation complex ELL subunit 2 (I...
PREDICTED: Homo sapiens interactor of little elongation complex ELL subunit 2 (ICE2), transcript variant X10, mRNAgi|2462545821|ref|XM_054378775.1|Nucleotide
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PREDICTED: Homo sapiens interactor of little elongation complex ELL subunit 2 (I...
PREDICTED: Homo sapiens interactor of little elongation complex ELL subunit 2 (ICE2), transcript variant X1, mRNAgi|2462545817|ref|XM_054378773.1|Nucleotide
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little elongation complex subunit 2 isoform X2 [Homo sapiens]
little elongation complex subunit 2 isoform X2 [Homo sapiens]gi|2462545824|ref|XP_054234751.1|Protein
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Last Updated: Sep 29, 2024