NM_032043.3(BRIP1):c.2082del (p.Leu695fs) AND Familial cancer of breast
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jan 17, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003140309.1
Allele description [Variation Report for NM_032043.3(BRIP1):c.2082del (p.Leu695fs)]
NM_032043.3(BRIP1):c.2082del (p.Leu695fs)
Condition(s)
-
S-adenosyl-L-methionine-dependent methyltransferases superfamily protein [Arabid...
S-adenosyl-L-methionine-dependent methyltransferases superfamily protein [Arabidopsis thaliana]gi|30690149|ref|NP_851079.1|Protein
-
COP9 signalosome complex subunit 1 isoform 4 [Homo sapiens]
COP9 signalosome complex subunit 1 isoform 4 [Homo sapiens]gi|1007361328|ref|NP_001308019.1|Protein
-
Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitr...
Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3, mRNA (cDNA clone MGC:18107 IMAGE:4152390), complete cdsgi|21961492|gb|BC034554.1|Nucleotide
-
Congenital heart defect-round face-developmental delay syndrome
Congenital heart defect-round face-developmental delay syndromeMedGen
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See more...Assertion and evidence details
Last Updated: Sep 8, 2024