View individual #00001280

Ethnic origin Argentinian
Reference -
Panel size 1
Diseases -
Owner name Silvina Sisterna-Hospital Privado


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

Template     

Technique     

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Remarks     

Date of test     

Type of test     

Genes screened     

Variants found     

Owner     
0000001519 DNA CNV;SEQ-NG IACA Panel (APC, ATM, BMPR1A, BRCA1, BRCA2, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, PTEN, SMAD4, STK11, TP53) 28-mar-2018 Multigenetic panel - 28 Silvina Sisterna-Hospital Privado



Variants

28 entries on 1 page. Showing entries 1 - 28.
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Chr     

Allele     

AscendingDNA change (genomic) (hg38)     

Reference     

DB-ID     

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Exon     

DNA change (cDNA)     

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Co_ocurrence     

RNA change     

Reference     
1 Unknown g.45331833C>G - MUTYH_000004 Silvina Sisterna-Hospital Privado MUTYH -/- 12 NM_001128425.1:c.1014G>C p.(Gln338His) Hetero no r.(?) -
2 Unknown g.47373967T>C - EPCAM_000001 Silvina Sisterna-Hospital Privado EPCAM -/- 3 NM_002354.2:c.344T>C p.(Met115Thr) Hetero no r.(?) -
2 Unknown g.47799632_47799634del - MSH6_000045 Silvina Sisterna-Hospital Privado MSH6 ?/? 4 NM_000179.2:c.1649_1651del p.(Ser550_Gly551delinsCys) Hetero no r.(?) -
2 Unknown g.47800264A>G - MSH6_000046 Silvina Sisterna-Hospital Privado MSH6 ?/? 4 NM_000179.2:c.2281A>G p.(Arg761Gly) Hetero no r.(?) -
5 Unknown g.112827157T>C - APC_000006 Silvina Sisterna-Hospital Privado APC -/- 11 NM_000038.5:c.1458T>C p.(=) Hetero no r.(=) -
5 Unknown g.112828864G>A - APC_000007 Silvina Sisterna-Hospital Privado APC -/- 13 NM_000038.5:c.1635G>A p.(=) Hetero no r.(=) -
5 Unknown g.112840073G>A - APC_000008 Silvina Sisterna-Hospital Privado APC -/- 15 NM_000038.5:c.4479G>A p.(=) Hetero no r.(=) -
5 Unknown g.112840628G>A - APC_000009 Silvina Sisterna-Hospital Privado APC -/- 15 NM_000038.5:c.5034G>A p.(=) Hetero no r.(=) -
5 Unknown g.112840862T>G - APC_000013 Silvina Sisterna-Hospital Privado APC -/- 15 NM_000038.5:c.5268T>G p.(=) Hetero no r.(=) -
5 Unknown g.112841059T>A - APC_000002 Silvina Sisterna-Hospital Privado APC -/- 15 NM_000038.5:c.5465T>A p.(Val1822Asp) Hetero no r.(?) -
5 Unknown g.112841474G>A - APC_000011 Silvina Sisterna-Hospital Privado APC -/- 15 NM_000038.5:c.5880G>A p.(=) Hetero no r.(=) -
7 Unknown g.5986766C>T - PMS2_000043 Silvina Sisterna-Hospital Privado PMS2 ?/? 11 NM_000535.5:c.1999G>A p.(Glu667Lys) Hetero no r.(?) -
7 Unknown g.5987144T>C - PMS2_000009 Silvina Sisterna-Hospital Privado PMS2 -/- 11 NM_000535.5:c.1621A>G p.(Lys541Glu) Homo no r.(?) -
7 Unknown g.5987234T>C - PMS2_000038 Silvina Sisterna-Hospital Privado PMS2 -/- 11 NM_000535.5:c.1531A>G p.(Thr511Ala) Hetero no r.(?) -
7 Unknown g.5987357G>A - PMS2_000005 Silvina Sisterna-Hospital Privado PMS2 -/- 11 NM_000535.5:c.1408C>T p.(Pro470Ser) Hetero no r.(?) -
7 Unknown g.5997349G>C - PMS2_000004 Silvina Sisterna-Hospital Privado PMS2 -/- 7 NM_000535.5:c.780C>G p.(=) Homo no r.(=) -
8 Unknown g.89955483A>G - NBN_000009 Silvina Sisterna-Hospital Privado NBN -/- 10 NM_002485.4:c.1197T>C p.(=) Hetero no r.(=) -
10 Unknown g.86876022C>A - BMPR1A_000002 Silvina Sisterna-Hospital Privado BMPR1A -/- 3 NM_004329.2:c.4C>A p.(Pro2Thr) Hetero no r.(?) -
11 Unknown g.108312440G>A - ATM_000004 Silvina Sisterna-Hospital Privado ATM -/- 40 NM_000051.3:c.5948G>A p.(Ser1983Asn) Homo no r.(?) -
13 Unknown g.32338162T>C - BRCA2_000001 Silvina Sisterna-Hospital Privado BRCA2 -/- 11 NM_000059.3:c.3807T>C p.(=) Homo no r.(=) -
13 Unknown g.32338918A>G - BRCA2_000010 Silvina Sisterna-Hospital Privado BRCA2 -/- 11 NM_000059.3:c.4563A>G p.(=) Homo no r.(=) -
13 Unknown g.32340868G>C - BRCA2_000036 Silvina Sisterna-Hospital Privado BRCA2 -/- 11 NM_000059.3:c.6513G>C p.(=) Homo no r.(=) -
13 Unknown g.32355250T>C - BRCA2_000012 Silvina Sisterna-Hospital Privado BRCA2 -/- 14 NM_000059.3:c.7397T>C p.(Val2466Ala) Homo no r.(?) -
16 Unknown g.68787043G>A - CDH1_000015 Silvina Sisterna-Hospital Privado CDH1 -/-? 1i NM_004360.3:c.164-14627G>A p.(=) Hetero no r.(=) -
16 Unknown g.68823538T>C - CDH1_000001 Silvina Sisterna-Hospital Privado CDH1 -/- 13 NM_004360.3:c.2076T>C p.(=) Homo no r.(=) -
17 Unknown g.7676154G>C - TP53_000001 Silvina Sisterna-Hospital Privado TP53 -/- 4 NM_000546.5:c.215C>G p.(Pro72Arg) Homo no r.(?) -
17 Unknown g.43092919G>A - BRCA1_000004 Silvina Sisterna-Hospital Privado BRCA1 -/- 11 NM_007294.3:c.2612C>T p.(Pro871Leu) Hetero no r.(?) -
22 Unknown g.28734024T>C - CHEK2_000007 Silvina Sisterna-Hospital Privado CHEK2 -/-? 2i NM_001005735.1:c.319+379A>G p.(=) Homo no r.(=) -
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