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.

70 entries on 1 page. Showing entries 1 - 70.
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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)     

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DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

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VIP     

Methylation     

Template     

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Tissue     

Remarks     

Disease     

ID_report     

Reference     

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VIP     

Data_av     

Treatment     

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Owner     
?/. 14i c.4485-63C>G r.(?) ? - Unknown - NA g.41226601G>C g.43074584G>C IVS14-63A/G - BRCA1_000321 - PubMed: Diez 2003 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/- 14i c.4485-63C>G r.(=) p.(=) - Unknown kConFab benign g.41226601G>C g.43074584G>C IVS 14-63 C>G - BRCA1_000321 - kConFab variant classification: PM - - Germline - 12/1658 - - - DNA SEQ - - cancer, breast - - 12 breast-ovarian cancer families (kConFab) - - Australia;New Zealand - - - - - 12 kConFab - Heather Thorne
-/. 14i c.4485-63C>G r.(?) p.(=) - Unknown ENIGMA benign g.41226601G>C g.43074584G>C IVS14-64C>G - BRCA1_000321 - - - rs273900734 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 14i c.4485-63C>G r.(?) p.(=) - Unknown ENIGMA benign g.41226601G>C g.43074584G>C IVS14-64C>G - BRCA1_000321 - - - rs273900734 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 14i c.4485-63C>G r.(?) p.(=) - Unknown ENIGMA benign g.41226601G>C g.43074584G>C IVS14-64C>G - BRCA1_000321 - - - rs273900734 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 14i c.4485-63C>G r.(?) p.(=) - Unknown ENIGMA benign g.41226601G>C g.43074584G>C IVS14-64C>G - BRCA1_000321 - - - rs273900734 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 14i c.4485-63C>G r.(?) p.(=) - Unknown ENIGMA benign g.41226601G>C g.43074584G>C IVS14-64C>G - BRCA1_000321 - - - rs273900734 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 14i c.4485-63C>G r.(?) p.(=) - Unknown ENIGMA benign g.41226601G>C g.43074584G>C IVS14-64C>G - BRCA1_000321 - - - rs273900734 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 14i c.4485-63C>G r.(?) p.(=) - Unknown ENIGMA benign g.41226601G>C g.43074584G>C IVS14-64C>G - BRCA1_000321 - - - rs273900734 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 14i c.4485-63C>G r.(?) p.(=) - Unknown ENIGMA benign g.41226601G>C g.43074584G>C IVS14-64C>G - BRCA1_000321 - - - rs273900734 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 14i c.4485-63C>G r.(?) p.(=) - Unknown ENIGMA benign g.41226601G>C g.43074584G>C IVS14-64C>G - BRCA1_000321 - - - rs273900734 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 14i c.4485-63C>G r.(?) p.(=) - Unknown ENIGMA benign g.41226601G>C g.43074584G>C IVS14-64C>G - BRCA1_000321 - - - rs273900734 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 14i c.4485-63C>G r.(?) p.(=) - Unknown ENIGMA benign g.41226601G>C g.43074584G>C IVS14-64C>G - BRCA1_000321 - - - rs273900734 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 14i c.4485-63C>G r.(?) p.(=) - Unknown ENIGMA benign g.41226601G>C g.43074584G>C IVS14-64C>G - BRCA1_000321 - - - rs273900734 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 14i c.4485-63C>G r.(?) p.(=) - Unknown ENIGMA benign g.41226601G>C g.43074584G>C IVS14-64C>G - BRCA1_000321 - - - rs273900734 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 14i c.4485-63C>G r.(?) p.(=) - Unknown ENIGMA benign g.41226601G>C g.43074584G>C IVS14-64C>G - BRCA1_000321 - - - rs273900734 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 14i c.4485-63C>G r.(?) p.(=) - Unknown ENIGMA benign g.41226601G>C g.43074584G>C IVS14-64C>G - BRCA1_000321 - - - rs273900734 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 14i c.4485-63C>G r.(?) p.(=) - Unknown ENIGMA benign g.41226601G>C g.43074584G>C IVS14-64C>G - BRCA1_000321 - - - rs273900734 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 14i c.4485-63C>G r.(?) p.(=) - Unknown ENIGMA benign g.41226601G>C g.43074584G>C IVS14-64C>G - BRCA1_000321 - - - rs273900734 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 14i c.4485-63C>G r.(?) p.(=) - Unknown ENIGMA benign g.41226601G>C g.43074584G>C IVS14-64C>G - BRCA1_000321 - - - rs273900734 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 14i c.4485-63C>G r.(?) p.(=) - Unknown ENIGMA benign g.41226601G>C g.43074584G>C IVS14-64C>G - BRCA1_000321 - - - rs273900734 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 14i c.4485-63C>G r.(?) p.(=) - Unknown ENIGMA benign g.41226601G>C g.43074584G>C IVS14-64C>G - BRCA1_000321 - - - rs273900734 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 14i c.4485-63C>G r.(?) p.(=) - Unknown ENIGMA benign g.41226601G>C g.43074584G>C IVS14-64C>G - BRCA1_000321 - - - rs273900734 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 14i c.4485-63C>G r.(?) p.(=) - Unknown ENIGMA benign g.41226601G>C g.43074584G>C IVS14-64C>G - BRCA1_000321 - - - rs273900734 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 14i c.4485-63C>G r.(?) p.(=) - Unknown ENIGMA benign g.41226601G>C g.43074584G>C IVS14-64C>G - BRCA1_000321 - - - rs273900734 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 14i c.4485-63C>G r.(?) p.(=) - Unknown ENIGMA benign g.41226601G>C g.43074584G>C IVS14-64C>G - BRCA1_000321 - - - rs273900734 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 14i c.4485-63C>G r.(?) p.(=) - Unknown ENIGMA benign g.41226601G>C g.43074584G>C IVS14-64C>G - BRCA1_000321 - - - rs273900734 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 14i c.4485-63C>G r.(?) p.(=) - Unknown ENIGMA benign g.41226601G>C g.43074584G>C IVS14-64C>G - BRCA1_000321 - - - rs273900734 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 14i c.4485-63C>G r.(?) p.(=) - Unknown ENIGMA benign g.41226601G>C g.43074584G>C IVS14-64C>G - BRCA1_000321 - - - rs273900734 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 14i c.4485-63C>G r.(?) p.(=) - Unknown ENIGMA benign g.41226601G>C g.43074584G>C IVS14-64C>G - BRCA1_000321 - - - rs273900734 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 14i c.4485-63C>G r.(?) p.(=) - Unknown ENIGMA benign g.41226601G>C g.43074584G>C IVS14-64C>G - BRCA1_000321 - - - rs273900734 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 14i c.4485-63C>G r.(?) p.(=) - Unknown ENIGMA benign g.41226601G>C g.43074584G>C IVS14-64C>G - BRCA1_000321 - - - rs273900734 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 14i c.4485-63C>G r.(?) p.(=) - Unknown ENIGMA benign g.41226601G>C g.43074584G>C IVS14-64C>G - BRCA1_000321 - - - rs273900734 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 14i c.4485-63C>G r.(?) p.(=) - Unknown ENIGMA benign g.41226601G>C g.43074584G>C IVS14-64C>G - BRCA1_000321 - - - rs273900734 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 14i c.4485-63C>G r.(?) p.(=) - Unknown ENIGMA benign g.41226601G>C g.43074584G>C IVS14-64C>G - BRCA1_000321 - - - rs273900734 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 14i c.4485-63C>G r.(?) p.(=) - Unknown ENIGMA benign g.41226601G>C g.43074584G>C IVS14-64C>G - BRCA1_000321 - - - rs273900734 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 14i c.4485-63C>G r.(?) p.(=) - Unknown ENIGMA benign g.41226601G>C g.43074584G>C IVS14-64C>G - BRCA1_000321 - - - rs273900734 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 14i c.4485-63C>G r.(?) p.(=) - Parent #1 - benign g.41226601G>C g.43074584G>C - - BRCA1_000321 Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.3304 (Asian), 0.2154 (African), 0.3588 (European), derived from 1000 genomes (2012-04-30). ENIGMA classification criteria - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
-/. 14i c.4485-63C>G r.(?) p.(=) - Unknown - benign g.41226601G>C g.43074584G>C - - BRCA1_000321 - - - rs273900734 Germline - 45/1900 cases - - - DNA SEQ - - cancer, breast BR1484 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 14i c.4485-63C>G r.(?) p.(=) - Unknown - benign g.41226601G>C g.43074584G>C - - BRCA1_000321 - - - rs273900734 Germline - 45/1900 cases - - - DNA SEQ - - cancer, breast BR1489 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 14i c.4485-63C>G r.(?) p.(=) - Unknown - benign g.41226601G>C g.43074584G>C - - BRCA1_000321 - - - rs273900734 Germline - 45/1900 cases - - - DNA SEQ - - cancer, breast BR1492 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 14i c.4485-63C>G r.(?) p.(=) - Unknown - benign g.41226601G>C g.43074584G>C - - BRCA1_000321 - - - rs273900734 Germline - 45/1900 cases - - - DNA SEQ - - cancer, breast BR1493 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 14i c.4485-63C>G r.(?) p.(=) - Unknown - benign g.41226601G>C g.43074584G>C - - BRCA1_000321 - - - rs273900734 Germline - 45/1900 cases - - - DNA SEQ - - cancer, breast BR1494 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 14i c.4485-63C>G r.(?) p.(=) - Unknown - benign g.41226601G>C g.43074584G>C - - BRCA1_000321 - - - rs273900734 Germline - 45/1900 cases - - - DNA SEQ - - cancer, breast BR1498 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 14i c.4485-63C>G r.(?) p.(=) - Unknown - benign g.41226601G>C g.43074584G>C - - BRCA1_000321 - - - rs273900734 Germline - 45/1900 cases - - - DNA SEQ - - cancer, breast BR1499 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 14i c.4485-63C>G r.(?) p.(=) - Unknown - benign g.41226601G>C g.43074584G>C - - BRCA1_000321 - - - rs273900734 Germline - 45/1900 cases - - - DNA SEQ - - cancer, breast BR1500 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 14i c.4485-63C>G r.(?) p.(=) - Unknown - benign g.41226601G>C g.43074584G>C - - BRCA1_000321 - - - rs273900734 Germline - 45/1900 cases - - - DNA SEQ - - cancer, breast BR1501 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 14i c.4485-63C>G r.(?) p.(=) - Unknown - benign g.41226601G>C g.43074584G>C - - BRCA1_000321 - - - rs273900734 Germline - 1/1900 cases - - - DNA SEQ - - cancer, breast BR1502 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 14i c.4485-63C>G r.(?) p.(=) - Unknown - benign g.41226601G>C g.43074584G>C - - BRCA1_000321 - - - rs273900734 Germline - 1/1900 cases - - - DNA SEQ - - cancer, breast BR1503 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 14i c.4485-63C>G r.(?) p.(=) - Unknown - benign g.41226601G>C g.43074584G>C - - BRCA1_000321 - - - rs273900734 Germline - 45/1900 cases - - - DNA SEQ - - cancer, breast BR1504 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 14i c.4485-63C>G r.(?) p.(=) - Unknown - benign g.41226601G>C g.43074584G>C - - BRCA1_000321 - - - rs273900734 Germline - 45/1900 cases - - - DNA SEQ - - cancer, breast BR1506 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 14i c.4485-63C>G r.(?) p.(=) - Unknown - benign g.41226601G>C g.43074584G>C - - BRCA1_000321 - - - rs273900734 Germline - 45/1900 cases - - - DNA SEQ - - cancer, breast BR1508 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 14i c.4485-63C>G r.(?) p.(=) - Unknown - benign g.41226601G>C g.43074584G>C - - BRCA1_000321 - - - rs273900734 Germline - 1/1900 cases - - - DNA SEQ - - cancer, breast BR1511 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 14i c.4485-63C>G r.(?) p.(=) - Unknown - benign g.41226601G>C g.43074584G>C - - BRCA1_000321 - - - rs273900734 Germline - 1/1900 cases - - - DNA SEQ - - cancer, breast BR1513 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 14i c.4485-63C>G r.(?) p.(=) - Unknown - benign g.41226601G>C g.43074584G>C - - BRCA1_000321 - - - rs273900734 Germline - 45/1900 cases - - - DNA SEQ - - cancer, breast BR1514 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 14i c.4485-63C>G r.(?) p.(=) - Unknown - benign g.41226601G>C g.43074584G>C - - BRCA1_000321 - - - rs273900734 Germline - 1/1900 cases - - - DNA SEQ - - cancer, breast BR1515 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 14i c.4485-63C>G r.(?) p.(=) - Unknown - benign g.41226601G>C g.43074584G>C - - BRCA1_000321 - - - rs273900734 Germline - 45/1900 cases - - - DNA SEQ - - cancer, breast BR1487 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 14i c.4485-63C>G r.(?) p.(=) - Unknown - benign g.41226601G>C g.43074584G>C - - BRCA1_000321 - - - rs273900734 Germline - 45/1900 cases - - - DNA SEQ - - cancer, breast BR1491 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 14i c.4485-63C>G r.(?) p.(=) - Unknown - benign g.41226601G>C g.43074584G>C - - BRCA1_000321 - - - rs273900734 Germline - 45/1900 cases - - - DNA SEQ - - cancer, breast BR1495 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 14i c.4485-63C>G r.(?) p.(=) - Unknown - benign g.41226601G>C g.43074584G>C - - BRCA1_000321 - - - rs273900734 Germline - 45/1900 cases - - - DNA SEQ - - cancer, breast BR1509 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 14i c.4485-63C>G r.(?) p.(=) - Unknown - benign g.41226601G>C g.43074584G>C - - BRCA1_000321 - - - rs273900734 Germline - 45/1900 cases - - - DNA SEQ - - cancer, breast BR1536 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 14i c.4485-63C>G r.(=) p.(=) - Unknown - benign g.41226601G>C g.43074584G>C BRCA1(NM_007294.3):c.4485-63C>G, BRCA1(NM_007294.4):c.4485-63C>G - BRCA1_000321 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 14i c.4485-63C>G r.(=) p.(=) - Unknown - benign g.41226601G>C g.43074584G>C BRCA1(NM_007294.3):c.4485-63C>G, BRCA1(NM_007294.4):c.4485-63C>G - BRCA1_000321 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 14i c.4485-63C>G r.(=) p.(=) - Unknown - benign g.41226601G>C g.43074584G>C BRCA1(NM_007294.3):c.4485-63C>G, BRCA1(NM_007294.4):c.4485-63C>G - BRCA1_000321 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.4485-63C>G r.(?) p.(=) - Parent #1 - benign g.41226601G>C g.43074584G>C 4485-63C>G - BRCA1_000321 - PubMed: Bhaskaran 2019 - (refs -) - rs273900734 Germline - - - - - DNA SEQ - - cancer, breast BRCA1-var427 PubMed: Bhaskaran 2019 review Chinese BRCA1/2 case - - China - - - - - 1 Johan den Dunnen
-/. 14i c.4485-63C>G r.(?) p.(=) - Unknown - benign g.41226601G>C g.43074584G>C - - BRCA1_000321 - - - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel cancer, breast - - - - - Argentina Italy - - - - 1 Maximiliano Zeballos
-/. 14i c.4485-63C>G r.(?) p.(=) - Unknown - benign g.41226601G>C g.43074584G>C - - BRCA1_000321 - - - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel cancer, ovarian - - - - - Argentina Italy - - - - 1 Maximiliano Zeballos
-/. 14i c.4485-63C>G r.(?) p.(=) - Unknown - benign g.41226601G>C g.43074584G>C - - BRCA1_000321 - - - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel cancer, breast - - - - - Argentina Italy - - - - 1 Maximiliano Zeballos
-/. 14i c.4485-63C>G r.spl? p.(=) - Unknown - benign g.41226601G>C g.43074584G>C - - BRCA1_000321 - Journal: Gao 2020 as reported in: Tao Tao 2014 - - Germline - 3 families/patients - - - DNA ?, SEQ - - BROVCA - Journal: Gao 2020 as reported in: Tao Tao 2014 breast/ovarian cancer families/patients - - China - - - - - 3 Xianqi Gao
-/. - c.4485-63C>G r.(=) p.(=) - Unknown - benign g.41226601G>C - BRCA1(NM_007294.3):c.4485-63C>G, BRCA1(NM_007294.4):c.4485-63C>G - BRCA1_000321 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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