NM_000059.4(BRCA2):c.7472A>T (p.Gln2491Leu) AND Hereditary breast ovarian cancer syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 31, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001042342.8
Allele description [Variation Report for NM_000059.4(BRCA2):c.7472A>T (p.Gln2491Leu)]
NM_000059.4(BRCA2):c.7472A>T (p.Gln2491Leu)
Condition(s)
- Name:
- Hereditary breast ovarian cancer syndrome
- Synonyms:
- Hereditary breast and ovarian cancer syndrome; Hereditary breast and ovarian cancer; Hereditary breast and ovarian cancer syndrome (HBOC); See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0003582; MeSH: D061325; MedGen: C0677776; Orphanet: 145
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Homo sapiens TTK protein kinase (TTK), transcript variant 2, mRNA
Homo sapiens TTK protein kinase (TTK), transcript variant 2, mRNAgi|1890341950|ref|NM_001166691.2|Nucleotide
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K-EST0169766 L8SCK0 Homo sapiens cDNA clone L8SCK0-15-B04 5', mRNA sequence
K-EST0169766 L8SCK0 Homo sapiens cDNA clone L8SCK0-15-B04 5', mRNA sequencegi|27947767|gnl|dbEST|16805953|gb|C 65.1|Nucleotide
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JGI_XZT66278.fwd NIH_XGC_tropTad5 Xenopus tropicalis cDNA clone IMAGE:7785348 5'...
JGI_XZT66278.fwd NIH_XGC_tropTad5 Xenopus tropicalis cDNA clone IMAGE:7785348 5', mRNA sequencegi|74304468|gnl|dbEST|31379994|gb|C 09.2|Nucleotide
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JGI_CAAO2740.rev NIH_XGC_tropTe5 Xenopus tropicalis cDNA clone CAAO2740 3', mRNA...
JGI_CAAO2740.rev NIH_XGC_tropTe5 Xenopus tropicalis cDNA clone CAAO2740 3', mRNA sequencegi|71935812|gnl|dbEST|30598363|gb|C 74.2|Nucleotide
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EC2BBA9BA04.b1 Xenopus tropicalis xtbs plasmid library Xenopus tropicalis cDNA c...
EC2BBA9BA04.b1 Xenopus tropicalis xtbs plasmid library Xenopus tropicalis cDNA clone xtbs09A08 3', mRNA sequencegi|45886821|gnl|dbEST|22207314|gb|C 25.1|Nucleotide
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Last Updated: Sep 29, 2024