Individual #00000315

Ethnic origin Spanish-Argentinian
Reference -
Remarks -
Cuadro familiar -
Panel size 1
Diseases -
Owner name Pablo Kalfayan-Hospital Italiano
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Instituto Nacional del Cancer


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

Template     

Technique     

Lab     

Remarks     

Date of test     

Type of test     

Genes screened     

Variants found     

Owner     
0000000368 DNA SEQ-NG CEMIC - 21-jun-2017 - BRCA1, BRCA2 9 Pablo Kalfayan-Hospital Italiano
0000000369 DNA MLPA CEMIC - 5-sep-2017 - BRCA1, BRCA2, CHEK2 - Pablo Kalfayan-Hospital Italiano



Variants

9 entries on 1 page. Showing entries 1 - 9.
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Chr     

Allele     

Effect     

AscendingDNA change (genomic) (hg38)     

Reference     

DB-ID     

dbSNP ID     

Variant remarks     

Owner     

Gene     

Exon     

DNA change (cDNA)     

Protein     

Zygosity     

Co_ocurrence     

RNA change     

Review status     
17 Unknown -/- g.43070958C>T - BRCA1_000020 - - Pablo Kalfayan-Hospital Italiano BRCA1 16 NM_007294.3:c.4956G>A p.(Met1652Ile) Hetero no r.(?) -
17 Unknown -/- g.43071077T>C - BRCA1_000009 - - Pablo Kalfayan-Hospital Italiano BRCA1 16 NM_007294.3:c.4837A>G p.(Ser1613Gly) Homo no r.(?) -
17 Unknown -/- g.43082453A>G - BRCA1_000008 - - Pablo Kalfayan-Hospital Italiano BRCA1 13 NM_007294.3:c.4308T>C p.(=) Homo no r.(=) -
17 Unknown -/- g.43091983T>C - BRCA1_000007 - - Pablo Kalfayan-Hospital Italiano BRCA1 11 NM_007294.3:c.3548A>G p.(Lys1183Arg) Homo no r.(?) -
17 Unknown -/- g.43092418T>C - BRCA1_000006 - - Pablo Kalfayan-Hospital Italiano BRCA1 11 NM_007294.3:c.3113A>G p.(Glu1038Gly) Homo no r.(?) -
17 Unknown -/- g.43092919G>A - BRCA1_000004 - - Pablo Kalfayan-Hospital Italiano BRCA1 11 NM_007294.3:c.2612C>T p.(Pro871Leu) Homo no r.(?) -
17 Unknown -/- g.43093220A>G - BRCA1_000003 - - Pablo Kalfayan-Hospital Italiano BRCA1 11 NM_007294.3:c.2311T>C p.(=) Homo no r.(=) -
17 Unknown -/- g.43093449G>A - BRCA1_000002 - - Pablo Kalfayan-Hospital Italiano BRCA1 11 NM_007294.3:c.2082C>T p.(=) Homo no r.(=) -
17 Unknown -/- g.43124230A>G - BRCA1_000001 - - Pablo Kalfayan-Hospital Italiano BRCA1 1i NM_007294.3:c.-19-115T>C p.(=) Homo no r.(=) -
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