NM_000059.4(BRCA2):c.5222_5225del (p.Ser1741fs) AND Hereditary breast ovarian cancer syndrome
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jan 18, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001854526.14
Allele description [Variation Report for NM_000059.4(BRCA2):c.5222_5225del (p.Ser1741fs)]
NM_000059.4(BRCA2):c.5222_5225del (p.Ser1741fs)
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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family 65 glycosyl hydrolase [Streptomyces rimosus R6-500]
family 65 glycosyl hydrolase [Streptomyces rimosus R6-500]gi|1785478123|gnl|PRJNA227408|V519_ 0|gb|QGY65096.1|Protein
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laa02b10.y1 8 5 week embryo anterior tongue 8 5 EAT Homo sapiens cDNA 5', mRNA s...
laa02b10.y1 8 5 week embryo anterior tongue 8 5 EAT Homo sapiens cDNA 5', mRNA sequencegi|19241382|gnl|dbEST|11483790|gb|B 16.1|Nucleotide
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Arabidopsis thaliana B3 DNA-binding domain protein (AT1G10455), partial mRNA
Arabidopsis thaliana B3 DNA-binding domain protein (AT1G10455), partial mRNAgi|22329470|ref|NM_148456.1|Nucleotide
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Last Updated: Oct 26, 2024