Full data view for gene BRCA2

All records describing functional studies of specific variants.
BRCA2 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_000059.3 transcript reference sequence.

9 entries on 1 page. Showing entries 1 - 9.
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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     
?/- 4i c.425+33A>G r.(=) p.(=) - Unknown - VUS g.32899354A>G g.32325217A>G - - BRCA2_002017 - Dutch/Belgium working group Breast Cancer DNA Diagnostics - rs200065709 Germline no - - - - DNA SEQ ? - cancer, breast - Dutch/Belgium working group Breast Cancer DNA Diagnostics - - - Netherlands - - - - - 1 Maaike Vreeswijk
?/? 4i c.425+33A>G r.(=) p.(=) - Parent #1 - VUS g.32899354A>G g.32325217A>G - - BRCA2_002017 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Cindy Badoer
-/. 4i c.425+33A>G r.(=) p.(=) - Unknown - benign g.32899354A>G g.32325217A>G - - BRCA2_002017 - shared by Quest Diagnostics - rs200065709 Unknown - - - - - DNA SEQ - - - - - individual screened for BRCA1/2 variants - - - - - - - - 1 Quest Diagnostics
?/. - c.425+33A>G r.(=) p.(=) - Parent #1 - VUS g.32899354A>G g.32325217A>G - - BRCA2_002017 Alamut: no altered splice site - - - Germline - - - - - DNA SEQ - - - - - - - - Germany - - - - - 1 Andreas Laner
-/. 4i c.425+33A>G r.(?) p.(=) - Unknown ENIGMA benign g.32899354A>G g.32325217A>G IVS4+33A>G - BRCA2_002017 - - - rs200065709 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 4i c.425+33A>G r.(?) p.(=) - Unknown - benign g.32899354A>G g.32325217A>G - - BRCA2_002017 - - - rs200065709 Germline - 2/1900 cases - - - DNA SEQ - - cancer, breast BR0450 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. - c.425+33A>G r.(=) p.(=) - Unknown - benign g.32899354A>G g.32325217A>G BRCA2(NM_000059.3):c.425+33A>G - BRCA2_002017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.425+33A>G r.(=) p.(=) - Unknown - benign g.32899354A>G g.32325217A>G BRCA2(NM_000059.3):c.425+33A>G - BRCA2_002017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.425+33A>G r.(=) p.(=) - Unknown - likely benign g.32899354A>G g.32325217A>G BRCA2(NM_000059.3):c.425+33A>G - BRCA2_002017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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