Full data view for gene BRCA1

Information The variants shown are described using the transcript reference sequence.

4 entries on 1 page. Showing entries 1 - 4.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Zygosity     

Co_ocurrence     

Review status     

Allele     

DNA change (genomic) (hg38)     

Reference     

DB-ID     

dbSNP ID     

Variant remarks     

Template     

Technique     

Date of test     

Lab     

Remarks     

Type of test     

Disease     

Ethnic origin     

Reference     

Remarks     

Cuadro familiar     

Panel size     

Owner     
+/+ 18 c.5030_5033del r.(?) p.(Thr1677Ilefs*2) Hetero N/A other names: 5149del4 Unknown g.43067649_43067652del - BRCA1_000180 rs80357580 - DNA MLPA, SEQ-NG 25-apr-2017 Myriad - - - Caucasian European - - - 1 Dolores Mansilla-Instituto Roffo
+/+ 16 c.5030_5033del r.(?) p.(Thr1677Ilefs*2) Hetero N/A - Unknown g.43067649_43067652del - BRCA1_000180 rs80357580 - DNA SEQ-NG 17-apr-2020 Hospital Privado Centro Médico de Córdoba Panel (29 genes) ATM, BARD1, BRCA1, BRCA2, BRIP1, CDC73, CDH1, CHEK2, DICER1, EPCAM, FANCC, MLH1, MSH2, MSH6,MUTYH, NBN, NF1, PALB2, PMS2, POLE, POLD1, PTEN, RAD50, RAD51C, RAD51D, SDHB, SDHD, STK11,TP54 Multigenetic panel Breast cancer Spanish - - Breast cancer, Ovarian cancer 1 Norma Rossi-Hospital de Córdoba
+/+ 16 c.5030_5033del r.(?) p.(Thr1677Ilefs*2) Hetero N/A - Unknown g.43067649_43067652del - BRCA1_000180 - - DNA SEQ-NG 17-apr-2020 Hospital Privado Centro Médico de Córdoba Panel (29 genes) ATM, BARD1, BRCA1, BRCA2, BRIP1, CDC73, CDH1, CHEK2, DICER1, EPCAM, FANCC, MLH1, MSH2, MSH6,MUTYH, NBN, NF1, PALB2, PMS2, POLE, POLD1, PTEN, RAD50, RAD51C, RAD51D, SDHB, SDHD, STK11,TP54 Multigenetic panel Breast cancer Spanish - - Breast cancer, Ovarian cancer 1 Norma Rossi-Hospital de Córdoba
+/+ 16 c.5030_5033del r.(?) p.(Thr1677Ilefs*2) Hetero N/A - Unknown g.43067649_43067652del - BRCA1_000180 - - DNA SEQ-NG 17-apr-2020 Hospital Privado Centro Médico de Córdoba Panel Cancer mama y Ovario (29 genes) ATM, BARD1, BRCA1, BRCA2, BRIP1,CDC73, CDH1, CHEK2, DICER1, EPCAM, FANCC, FANCM, MLH1, MSH2, MSH6, MUTYH, NBN, NF1, PALB2, PMS2, POLD1, PTEN, RAD50, RAD51C, RAD51D, STK11, SDHB, SDHD, TP53 Multigenetic panel -- Spanish - - - 1 Florencia Pabletich-Hospital de Córdoba
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