NM_000059.4(BRCA2):c.7008-7A>G AND Hereditary breast ovarian cancer syndrome
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Aug 17, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001489021.7
Allele description [Variation Report for NM_000059.4(BRCA2):c.7008-7A>G]
NM_000059.4(BRCA2):c.7008-7A>G
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 chromosome 7, GRCh38.p14 Primary Assembly
Homo sapiens chromosome 7, GRCh38.p14 Primary Assemblygi|568815591|gnl|ASM:GCF_000001305| |NC_000007.14||gpp|GPC_000001299.1||gnl|NCBI_GENOMES|7Nucleotide
-
PubChem Compound Links for Gene (Select 79648) (32)
PubChem Compound
-
microcephalin isoform X1 [Homo sapiens]
microcephalin isoform X1 [Homo sapiens]gi|2462621049|ref|XP_054217199.1|Protein
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024