Individual #00001447

Ethnic origin Unknown
Reference -
Remarks -
Cuadro familiar -
Panel size 1
Diseases -
Owner name Laura Vargas Roig-IMBECU
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     
0000001702 DNA SEQ-NG Biogenotec Panel (APC, ATM, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDK4, CDKN2A, CHEK2, MLH1, MSH2, MSH6, MUTYH, NBN, NF1, PALB2, PMS2, PTEN, RAD51D, RAD51D, SMAD4, STK11, TP53, EPCAM) 22-nov-2019 Multigenetic panel - 52 Laura Vargas Roig-IMBECU
0000001703 DNA CNV Sistemas Genómicos Panel (APC, ATM, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDK4, CDKN2A, CHEK2, EPCAM, FLCN, GREM1, MLH1, MSH2, MSH6, MUTYH, NBN, NTHL1, PALB2, PMS2, POLD1, POLE, PTEN, RAD51C, RAD51D, SMAD4, STK11, TP53) 5-dec-2019 Multigenetic panel - - Laura Vargas Roig-IMBECU



Variants

52 entries on 1 page. Showing entries 1 - 52.
Legend   How to query  

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     
2 Unknown -/-? g.47414443_47414447del - MSH2_000049 - - Laura Vargas Roig-IMBECU MSH2 5i NM_000251.2:c.942+25_942+29del p.(=) Hetero no r.(=) -
3 Unknown -/- g.37012077A>G - MLH1_000004 - - Laura Vargas Roig-IMBECU MLH1 8 NM_000249.3:c.655A>G p.(Ile219Val) Hetero no r.(?) -
3 Unknown -/- g.37042249A>G - MLH1_000007 - - Laura Vargas Roig-IMBECU MLH1 14i NM_000249.3:c.1668-19A>G p.(=) Hetero no r.(=) -
5 Unknown -/- g.112827157T>C - APC_000006 - - Laura Vargas Roig-IMBECU APC 11 NM_000038.5:c.1458T>C p.(=) Hetero no r.(=) -
5 Unknown -/- g.112828864G>A - APC_000007 - - Laura Vargas Roig-IMBECU APC 13 NM_000038.5:c.1635G>A p.(=) Hetero no r.(=) -
5 Unknown -/- g.112840073G>A - APC_000008 - - Laura Vargas Roig-IMBECU APC 15 NM_000038.5:c.4479G>A p.(=) Hetero no r.(=) -
5 Unknown -/- g.112840628G>A - APC_000009 - - Laura Vargas Roig-IMBECU APC 15 NM_000038.5:c.5034G>A p.(=) Hetero no r.(=) -
5 Unknown -/- g.112840862T>G - APC_000013 - - Laura Vargas Roig-IMBECU APC 15 NM_000038.5:c.5268T>G p.(=) Hetero no r.(=) -
5 Unknown -/- g.112841059T>A - APC_000002 - - Laura Vargas Roig-IMBECU APC 15 NM_000038.5:c.5465T>A p.(Val1822Asp) Homo no r.(?) -
5 Unknown -/- g.112841474G>A - APC_000011 - - Laura Vargas Roig-IMBECU APC 15 NM_000038.5:c.5880G>A p.(=) Hetero no r.(=) -
5 Unknown -/- g.112843098G>A - APC_000024 - - Laura Vargas Roig-IMBECU APC 15 NM_000038.5:c.7504G>A p.(Gly2502Ser) Hetero no r.(?) RECLASSIFIED NOVEMBER 2020
7 Unknown -/- g.5982995C>T - PMS2_000017 - - Laura Vargas Roig-IMBECU PMS2 11i NM_000535.5:c.2007-4G>A p.? Hetero no r.spl? -
7 Unknown -/- g.5987144T>C - PMS2_000009 - - Laura Vargas Roig-IMBECU PMS2 11 NM_000535.5:c.1621A>G p.(Lys541Glu) Homo no r.(?) -
7 Unknown -/- g.5987357G>A - PMS2_000005 - - Laura Vargas Roig-IMBECU PMS2 11 NM_000535.5:c.1408C>T p.(Pro470Ser) Homo no r.(?) -
7 Unknown -/- g.5997349G>C - PMS2_000004 - - Laura Vargas Roig-IMBECU PMS2 7 NM_000535.5:c.780C>G p.(=) Homo no r.(=) -
7 Unknown -/- g.5997427del - PMS2_000041 - - Laura Vargas Roig-IMBECU PMS2 6i NM_000535.5:c.706-4del p.? Hetero no r.spl? -
7 Unknown -/- g.5997427_5997428del - PMS2_000044 - - Laura Vargas Roig-IMBECU PMS2 6i NM_000535.5:c.706-5_706-4del p.? Hetero no r.spl? -
7 Unknown -/- g.5999091T>C - PMS2_000002 - - Laura Vargas Roig-IMBECU PMS2 6i NM_000535.5:c.705+17A>G p.(=) Homo no r.(=) -
7 Unknown -/- g.6003481C>T - PMS2_000045 - - Laura Vargas Roig-IMBECU PMS2 4i NM_000535.5:c.353+209G>A p.(=) Homo no r.(=) -
8 Unknown -/- g.89946194T>C - NBN_000011 - - Laura Vargas Roig-IMBECU NBN 13 NM_002485.4:c.2016A>G p.(=) Hetero no r.(=) -
8 Unknown -/- g.89946302T>C - NBN_000010 - - Laura Vargas Roig-IMBECU NBN 12i NM_002485.4:c.1915-7A>G p.(=) Hetero no r.(=) -
8 Unknown -/- g.89955483A>G - NBN_000009 - - Laura Vargas Roig-IMBECU NBN 10 NM_002485.4:c.1197T>C p.(=) Hetero no r.(=) -
8 Unknown -/- g.89958707G>A - NBN_000008 - - Laura Vargas Roig-IMBECU NBN 9i NM_002485.4:c.1124+18C>T p.(=) Hetero no r.(=) -
8 Unknown -/- g.89978251C>G - NBN_000007 - - Laura Vargas Roig-IMBECU NBN 5 NM_002485.4:c.553G>C p.(Glu185Gln) Hetero no r.(?) -
8 Unknown -/- g.89982791C>T - NBN_000006 - - Laura Vargas Roig-IMBECU NBN 2 NM_002485.4:c.102G>A p.(=) Hetero no r.(=) -
10 Unknown -/- g.87960877del - PTEN_000001 - - Laura Vargas Roig-IMBECU PTEN 7i NM_000314.6:c.802-3del . Hetero no . RECLASSIFIED NOVEMBER 2020
11 Unknown -?/- g.108250698dupT - ATM_000003 - - Laura Vargas Roig-IMBECU ATM 9i NM_000051.3:c.1236-3dupT p.? Hetero no r.spl? -
11 Unknown -/- g.108280982dup - ATM_000073 - - Laura Vargas Roig-IMBECU ATM 23i NM_000051.3:c.3403-13dup p.(=) Hetero no r.(=) RECLASSIFIED JULY 2022
13 Unknown -/- g.32332592A>C - BRCA2_000007 - - Laura Vargas Roig-IMBECU BRCA2 10 NM_000059.3:c.1114A>C p.(Asn372His) Hetero no r.(?) -
13 Unknown -/- g.32333270A>G - BRCA2_000135 - - Laura Vargas Roig-IMBECU BRCA2 10 NM_000059.3:c.1792A>G p.(Thr598Ala) Hetero no r.(?) -
13 Unknown -/- g.32338918A>G - BRCA2_000010 - - Laura Vargas Roig-IMBECU BRCA2 11 NM_000059.3:c.4563A>G p.(=) Homo no r.(=) -
13 Unknown -/- g.32340868G>C - BRCA2_000036 - - Laura Vargas Roig-IMBECU BRCA2 11 NM_000059.3:c.6513G>C p.(=) Homo no r.(=) -
13 Unknown -/- g.32355250T>C - BRCA2_000012 - - Laura Vargas Roig-IMBECU BRCA2 14 NM_000059.3:c.7397T>C p.(Val2466Ala) Homo no r.(?) -
13 Unknown -/- g.32362509T>C - BRCA2_000004 - - Laura Vargas Roig-IMBECU BRCA2 16i NM_000059.3:c.7806-14T>C p.(=) Homo no r.(=) -
16 Unknown -/- g.68737469C>T - CDH1_000002 - - Laura Vargas Roig-IMBECU CDH1 1i NM_004360.3:c.48+6C>T p.(=) Homo no r.(=) -
16 Unknown -/- g.68823538T>C - CDH1_000001 - - Laura Vargas Roig-IMBECU CDH1 13 NM_004360.3:c.2076T>C p.(=) Homo no r.(=) -
17 Unknown -?/- g.31181757G>A - NF1_000002 - - Laura Vargas Roig-IMBECU NF1 7 NM_000267.3:c.702G>A p.(=) Hetero no r.(=) -
17 Unknown -/- g.31181817dup - NF1_000009 - - Laura Vargas Roig-IMBECU NF1 7i NM_000267.3:c.730+32dup p.(=) Hetero no r.(=) -
17 Unknown -/- g.31226467G>A - NF1_000001 - - Laura Vargas Roig-IMBECU NF1 18 NM_000267.3:c.2034G>A p.(=) Hetero no r.(=) -
17 Unknown -/- g.31330377T>A - NF1_000010 - - Laura Vargas Roig-IMBECU NF1 38i NM_000267.3:c.5628T>A p.(=) Hetero no r.(=) -
17 Unknown -/- g.43071077T>C - BRCA1_000009 rs1799966 - Laura Vargas Roig-IMBECU BRCA1 16 NM_007294.3:c.4837A>G p.(Ser1613Gly) Hetero no r.(?) -
17 Unknown -/- g.43082453A>G - BRCA1_000008 - - Laura Vargas Roig-IMBECU BRCA1 13 NM_007294.3:c.4308T>C p.(=) Hetero no r.(=) -
17 Unknown -/- g.43091983T>C - BRCA1_000007 - - Laura Vargas Roig-IMBECU BRCA1 11 NM_007294.3:c.3548A>G p.(Lys1183Arg) Hetero no r.(?) -
17 Unknown -/- g.43092418T>C - BRCA1_000006 - - Laura Vargas Roig-IMBECU BRCA1 11 NM_007294.3:c.3113A>G p.(Glu1038Gly) Hetero no r.(?) -
17 Unknown -/- g.43092919G>A - BRCA1_000004 - - Laura Vargas Roig-IMBECU BRCA1 11 NM_007294.3:c.2612C>T p.(Pro871Leu) Hetero no r.(?) -
17 Unknown -/- g.43093220A>G - BRCA1_000003 - - Laura Vargas Roig-IMBECU BRCA1 11 NM_007294.3:c.2311T>C p.(=) Hetero no r.(=) -
17 Unknown -/- g.43093449G>A - BRCA1_000002 - - Laura Vargas Roig-IMBECU BRCA1 11 NM_007294.3:c.2082C>T p.(=) Hetero no r.(=) -
17 Unknown ?/? g.43104222G>C - BRCA1_000174 - - Laura Vargas Roig-IMBECU BRCA1 6 NM_007294.3:c.341C>G p.(Ser114Cys) Hetero no r.(?) -
17 Unknown -/-? g.61683635A>G - BRIP1_000003 - - Laura Vargas Roig-IMBECU BRIP1 20 NM_032043.2:c.3411T>C p.(=) Hetero no r.(=) -
17 Unknown -/-? g.61685986A>G - BRIP1_000002 - - Laura Vargas Roig-IMBECU BRIP1 19 NM_032043.2:c.2755T>C p.(Ser919Pro) Hetero no r.(?) -
17 Unknown -/-? g.61686104T>C - BRIP1_000001 - - Laura Vargas Roig-IMBECU BRIP1 19 NM_032043.2:c.2637A>G p.(=) Homo no r.(=) -
19 Unknown -/- g.1222013G>C - STK11_000002 - - Laura Vargas Roig-IMBECU STK11 7i NM_000455.4:c.920+7G>C p.(=) Hetero no r.(=) -
Legend   How to query