Full data view for gene BRCA1

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.

8 entries on 1 page. Showing entries 1 - 8.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Haplotype     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. _1_12i c.-232_(4185+1_4186-1){0} r.0? p.0? - Unknown - 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 - DNA ?, SEQ - - BROVCA - Journal: Gao 2020 as reported in: PubMed: Kwong 2015, Journal: Kwong 2015 breast/ovarian cancer families/patients - - China - - 0 - - 1 Xianqi Gao
+/+ _1_13i c.-232_(4357+1_4358-1){0} r.0? p.0? - Unknown - pathogenic g.(41234593_41242960)_(41277500_?)del - - - BRCA1_001492 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Marjolijn JL Ligtenberg
+/+ _1_13i c.-232_(4357+1_4358-1){0} r.0? p.0? - Unknown - pathogenic g.(41234593_41242960)_(41277500_?)del - ex1-13 del - BRCA1_001492 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/. _1_13i c.-232_(4357+1_4358-1){0} r.0? p.0? - Parent #1 - pathogenic g.(41228632_41234420)_(41277500_?)del - c.-232-?_4357+?del - BRCA1_001492 - Journal: Rebbeck 2018 - - Germline - - - 0 - DNA SEQ - - cancer, breast CIMBA-Fam? Journal: Rebbeck 2018 1 family F - Finland white - 0 - - 1 Johan den Dunnen
+/. _1_13i c.-232_(4357+1_4358-1){0} r.0? p.0? - Parent #1 - pathogenic g.(41228632_41234420)_(41277500_?)del - c.-232-?_4357+?del - BRCA1_001492 - Journal: Rebbeck 2018 - - Germline - - - 0 - DNA SEQ - - cancer, breast CIMBA-Fam? Journal: Rebbeck 2018 1 family F - Germany unknown - 0 - - 1 Johan den Dunnen
+/. _1_13i c.-232_(4357+1_4358-1){0} r.0? p.0? - Parent #1 - pathogenic g.(41228632_41234420)_(41277500_?)del - c.-232-?_4357+?del - BRCA1_001492 - Journal: Rebbeck 2018 - - Germline - - - 0 - DNA SEQ - - cancer, breast CIMBA-Fam? Journal: Rebbeck 2018 3 families F - Spain white - 0 - - 3 Johan den Dunnen
+/. _1_13i c.-232_(4357+1_4358-1){0} r.0? p.0? - Parent #1 - pathogenic g.(41228632_41234420)_(41277500_?)del - c.-232-?_4357+?del - BRCA1_001492 - Journal: Rebbeck 2018 - - Germline - - - 0 - DNA SEQ - - cancer, breast CIMBA-Fam? Journal: Rebbeck 2018 1 family F - United States Hispanic - 0 - - 1 Johan den Dunnen
+/. _1_13i c.-232_(4357+1_4358-1){0} r.0? p.0? - Parent #1 - pathogenic g.(41228632_41234420)_(41277500_?)del - -232-?_4357+?del - BRCA1_001492 - Journal: Rebbeck 2018 - - Germline - - - 0 - DNA SEQ - - cancer, breast CIMBA-Fam? Journal: Rebbeck 2018 1 family F - United States white - 0 - - 1 Johan den Dunnen
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