All variants in the BRCA1 gene

All records describing functional studies of specific variants. BRCA1 variants classified by the ENIGMA consortium.
Variants associated with Fanconi anemia
A Fanconi anemia mutation database.
Information The variants shown are described using the NM_007294.3 transcript reference sequence.

6 entries on 1 page. Showing entries 1 - 6.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Haplotype     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
+/+ _1_12i c.(?_-232)_(4185+1_4186-1)del r.spl? p.? - kConFab pathogenic g.(41234593_41242960)_(41277500_?)del - del exons 1_12 - BRCA1_002915 - kConFab variant classification: P - - Germline - 1/1658 - 0 - kConFab - Heather Thorne
+/. _1_12i c.(?_-232)_(4185+1_4186-1)del r.0? p.0? - - pathogenic g.(41234593_41242960)_(41277500_?)del - c.-232-?_4185+?del - BRCA1_002915 - Journal: Rebbeck 2018 - - Germline - - - 0 - Johan den Dunnen
+/. _1_12i c.(?_-232)_(4185+1_4186-1)del r.0? p.0? - - pathogenic g.(41234593_41242960)_(41277500_?)del - c.-232-?_4185+?del - BRCA1_002915 - Journal: Rebbeck 2018 - - Germline - - - 0 - Johan den Dunnen
+/. _1_12i c.(?_-232)_(4185+1_4186-1)del r.0? p.0? - - pathogenic g.(41234593_41242960)_(41277500_?)del - c.-232-?_4185+?del - BRCA1_002915 - Journal: Rebbeck 2018 - - Germline - - - 0 - Johan den Dunnen
+/. _1_12i c.(?_-232)_(4185+1_4186-1)del r.0? p.0? - - pathogenic g.(41234593_41242960)_(41277500_?)del - c.-232-?_4185+?del - BRCA1_002915 - Journal: Rebbeck 2018 - - Germline - - - 0 - Johan den Dunnen
+/. _1_12i c.(?_-232)_(4185+1_4186-1)del r.0? p.0? - - pathogenic (dominant) g.(41234593_41242960)_(41277500_?)del - Del:1-12 - BRCA1_001492 - Journal: Gao 2020 as reported in: PubMed: Kwong 2015, Journal: Kwong 2015 - - Germline - 1 families/patients - 0 - Xianqi Gao
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