Individual #00000856

Ethnic origin Italian
Reference -
Remarks -
Cuadro familiar -
Panel size 1
Diseases -
Owner name Lucas Sanchez-Sanatorio Méndez
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     
0000001012 DNA SEQ-NG CEMIC - 17-may-2018 Specific pathology BRCA1, BRCA2 11 Lucas Sanchez-Sanatorio Méndez
0000001013 DNA MLPA CEMIC CHEK2 1100delC also evaluated 5-sep-2018 Specific pathology BRCA1, BRCA2 - Lucas Sanchez-Sanatorio Méndez



Variants

11 entries on 1 page. Showing entries 1 - 11.
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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     
13 Unknown -/- g.32338162T>C - BRCA2_000001 - - Lucas Sanchez-Sanatorio Méndez BRCA2 11 NM_000059.3:c.3807T>C p.(=) Homo no r.(=) -
17 Unknown -/- g.43071077T>C - BRCA1_000009 - - Lucas Sanchez-Sanatorio Méndez BRCA1 16 NM_007294.3:c.4837A>G p.(Ser1613Gly) Hetero no r.(?) -
17 Unknown -/- g.43082453A>G - BRCA1_000008 - - Lucas Sanchez-Sanatorio Méndez BRCA1 13 NM_007294.3:c.4308T>C p.(=) Hetero no r.(=) -
17 Unknown -/- g.43091983T>C - BRCA1_000007 - - Lucas Sanchez-Sanatorio Méndez BRCA1 11 NM_007294.3:c.3548A>G p.(Lys1183Arg) Hetero no r.(?) -
17 Unknown -/- g.43092412C>T - BRCA1_000019 - - Lucas Sanchez-Sanatorio Méndez BRCA1 11 NM_007294.3:c.3119G>A p.(Ser1040Asn) Hetero no r.(?) -
17 Unknown -/- g.43092418T>C - BRCA1_000006 - - Lucas Sanchez-Sanatorio Méndez BRCA1 11 NM_007294.3:c.3113A>G p.(Glu1038Gly) Hetero no r.(?) -
17 Unknown -/- g.43092919G>A - BRCA1_000004 - - Lucas Sanchez-Sanatorio Méndez BRCA1 11 NM_007294.3:c.2612C>T p.(Pro871Leu) Hetero no r.(?) -
17 Unknown -/- g.43093220A>G - BRCA1_000003 - - Lucas Sanchez-Sanatorio Méndez BRCA1 11 NM_007294.3:c.2311T>C p.(=) Hetero no r.(=) -
17 Unknown -/- g.43093449G>A - BRCA1_000002 - - Lucas Sanchez-Sanatorio Méndez BRCA1 11 NM_007294.3:c.2082C>T p.(=) Hetero no r.(=) -
17 Unknown -/- g.43093454C>T - BRCA1_000016 - - Lucas Sanchez-Sanatorio Méndez BRCA1 11 NM_007294.3:c.2077G>A p.(Asp693Asn) Hetero no r.(?) -
17 Unknown -/- g.43099914G>A - BRCA1_000012 - - Lucas Sanchez-Sanatorio Méndez BRCA1 7i NM_007294.3:c.442-34C>T p.(=) Hetero no r.(=) -
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