NM_000059.4(BRCA2):c.462_463del (p.Arg155_Asp156insTer) AND multiple conditions
- Germline classification:
- not provided (1 submission)
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001535691.10
Allele description [Variation Report for NM_000059.4(BRCA2):c.462_463del (p.Arg155_Asp156insTer)]
NM_000059.4(BRCA2):c.462_463del (p.Arg155_Asp156insTer)
Condition(s)
- Name:
- Fanconi anemia complementation group D1
- Identifiers:
- MONDO: MONDO:0011584; MedGen: C1838457; OMIM: 605724
- 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 PAF1 homolog, Paf1/RNA polymerase II complex component (PAF1), tran...
Homo sapiens PAF1 homolog, Paf1/RNA polymerase II complex component (PAF1), transcript variant 1, mRNAgi|1519242785|ref|NM_019088.4|Nucleotide
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RecName: Full=RNA polymerase II-associated factor 1 homolog; Short=hPAF1; AltNam...
RecName: Full=RNA polymerase II-associated factor 1 homolog; Short=hPAF1; AltName: Full=Pancreatic differentiation protein 2gi|182670295|sp|Q8N7H5.2|PAF1_HUMANProtein
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Last Updated: Sep 8, 2024