NM_032043.3(BRIP1):c.3298G>A (p.Asp1100Asn) AND Hereditary cancer-predisposing syndrome
- Germline classification:
- Conflicting interpretations of pathogenicity (2 submissions)
- Last evaluated:
- Mar 20, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000130274.13
Allele description [Variation Report for NM_032043.3(BRIP1):c.3298G>A (p.Asp1100Asn)]
NM_032043.3(BRIP1):c.3298G>A (p.Asp1100Asn)
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
-
RecName: Full=Scavenger receptor cysteine-rich type 1 protein M130; AltName: Ful...
RecName: Full=Scavenger receptor cysteine-rich type 1 protein M130; AltName: Full=Hemoglobin scavenger receptor; AltName: CD_antigen=CD163; Contains: RecName: Full=Soluble CD163; Short=sCD163; Flags: Precursorgi|313104083|sp|Q86VB7.2|C163A_HUMAProtein
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See more...Assertion and evidence details
Last Updated: Oct 13, 2024