View individual #00001351

Ethnic origin Spanish
Reference -
Panel size 1
Diseases -
Owner name Dolores Mansilla-Instituto Roffo


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     
0000001596 DNA SEQ-NG CEMIC - 9-sep-2019 Multigenetic panel ATM, BRCA1, BRCA2, CHEK2, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, PTEN, TP53 20 Dolores Mansilla-Instituto Roffo



Variants

20 entries on 1 page. Showing entries 1 - 20.
Legend  

Chr     

Allele     

AscendingDNA change (genomic) (hg38)     

Reference     

DB-ID     

Owner     

Gene     

Effect     

Exon     

DNA change (cDNA)     

Protein     

Zygosity     

Co_ocurrence     

RNA change     

Reference     
1 Unknown g.45331833C>G - MUTYH_000004 Dolores Mansilla-Instituto Roffo MUTYH -/- 12 NM_001128425.1:c.1014G>C p.(Gln338His) Homo no r.(?) -
2 Unknown g.47803493G>T - MSH6_000047 Dolores Mansilla-Instituto Roffo MSH6 -/- 5 NM_000179.2:c.3246G>T p.(=) Hetero no r.(=) -
3 Unknown g.37012077A>G - MLH1_000004 Dolores Mansilla-Instituto Roffo MLH1 -/- 8 NM_000249.3:c.655A>G p.(Ile219Val) Homo no r.(?) -
7 Unknown g.5982995C>T - PMS2_000017 Dolores Mansilla-Instituto Roffo PMS2 -/- 11i NM_000535.5:c.2007-4G>A p.? Hetero no r.spl? -
7 Unknown g.5987144T>C - PMS2_000009 Dolores Mansilla-Instituto Roffo PMS2 -/- 11 NM_000535.5:c.1621A>G p.(Lys541Glu) Hetero no r.(?) -
7 Unknown g.5987357G>A - PMS2_000005 Dolores Mansilla-Instituto Roffo PMS2 -/- 11 NM_000535.5:c.1408C>T p.(Pro470Ser) Hetero no r.(?) -
7 Unknown g.5997349G>C - PMS2_000004 Dolores Mansilla-Instituto Roffo PMS2 -/- 7 NM_000535.5:c.780C>G p.(=) Hetero no r.(=) -
7 Unknown g.5997427del - PMS2_000041 Dolores Mansilla-Instituto Roffo PMS2 -/- 6i NM_000535.5:c.706-4del p.? Hetero no r.spl? -
7 Unknown g.5997427_5997428del - PMS2_000044 Dolores Mansilla-Instituto Roffo PMS2 -/- 6i NM_000535.5:c.706-5_706-4del p.? Hetero no r.spl? -
11 Unknown g.108268454C>A - ATM_000068 Dolores Mansilla-Instituto Roffo ATM ?/? 18 NM_000051.3:c.2683C>A p.(Leu895Ile) Hetero no r.(?) -
13 Unknown g.32338162T>C - BRCA2_000001 Dolores Mansilla-Instituto Roffo BRCA2 -/- 11 NM_000059.3:c.3807T>C p.(=) Homo no r.(=) -
17 Unknown g.7676154G>C - TP53_000001 Dolores Mansilla-Instituto Roffo TP53 -/- 4 NM_000546.5:c.215C>G p.(Pro72Arg) Homo no r.(?) -
17 Unknown g.43071077T>C - BRCA1_000009 Dolores Mansilla-Instituto Roffo BRCA1 -/- 16 NM_007294.3:c.4837A>G p.(Ser1613Gly) Homo no r.(?) -
17 Unknown g.43082453A>G - BRCA1_000008 Dolores Mansilla-Instituto Roffo BRCA1 -/- 13 NM_007294.3:c.4308T>C p.(=) Homo no r.(=) -
17 Unknown g.43091983T>C - BRCA1_000007 Dolores Mansilla-Instituto Roffo BRCA1 -/- 11 NM_007294.3:c.3548A>G p.(Lys1183Arg) Homo no r.(?) -
17 Unknown g.43092418T>C - BRCA1_000006 Dolores Mansilla-Instituto Roffo BRCA1 -/- 11 NM_007294.3:c.3113A>G p.(Glu1038Gly) Homo no r.(?) -
17 Unknown g.43092919G>A - BRCA1_000004 Dolores Mansilla-Instituto Roffo BRCA1 -/- 11 NM_007294.3:c.2612C>T p.(Pro871Leu) Homo no r.(?) -
17 Unknown g.43093220A>G - BRCA1_000003 Dolores Mansilla-Instituto Roffo BRCA1 -/- 11 NM_007294.3:c.2311T>C p.(=) Homo no r.(=) -
17 Unknown g.43093449G>A - BRCA1_000002 Dolores Mansilla-Instituto Roffo BRCA1 -/- 11 NM_007294.3:c.2082C>T p.(=) Homo no r.(=) -
17 Unknown g.43094020C>T - BRCA1_000170 Dolores Mansilla-Instituto Roffo BRCA1 -/- 11 NM_007294.3:c.1511G>A p.(Arg504His) Hetero no r.(?) -
Legend