NM_032043.3(BRIP1):c.3298G>A (p.Asp1100Asn) AND not specified
- Germline classification:
- Uncertain significance (2 submissions)
- Last evaluated:
- Aug 15, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002267875.5
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)
- Synonyms:
- AllHighlyPenetrant
- Identifiers:
- MedGen: CN169374
-
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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Last Updated: Oct 13, 2024