Full data view for gene ATM

Information The variants shown are described using the transcript reference sequence.

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

Exon     

AscendingDNA change (cDNA)     

Protein     

Zygosity     

Co_ocurrence     

RNA change     

Review status     

Allele     

DNA change (genomic) (hg38)     

Reference     

DB-ID     

dbSNP ID     

Variant remarks     

Template     

Technique     

Date of test     

Lab     

Remarks     

Type of test     

Disease     

Ethnic origin     

Reference     

Remarks     

Cuadro familiar     

Panel size     

Owner     
-/- 9i c.1236-3dupT p.? Hetero BRCA1 r.spl? - Unknown g.108250698dupT - ATM_000003 - - DNA SEQ-NG, z-score-CNV 23-may-2017 Héritas Panel Héritas (12 genes) - - Spanish - - - 1 Alejandra Mampel-Hospital Universitario de Mendoza
-/- 9i c.1236-3dupT p.? Hetero BRCA1 r.spl? - Unknown g.108250698dupT - ATM_000003 - - DNA SEQ-NG, z-score-CNV 21-jul-2017 Héritas - Multigenetic panel -- Caucasian - - - 1 Gonzalo Tabares-CEMA
-/- 9i c.1236-3dupT p.? Hetero no r.spl? - Unknown g.108250698dupT - ATM_000003 - - DNA SEQ-NG, z-score-CNV 19-jul-2017 Héritas - Multigenetic panel -- Caucasian - - - 1 Gonzalo Tabares-CEMA
-/- 9i c.1236-3dupT p.? Hetero no r.spl? - Unknown g.108250698dupT - ATM_000003 - - DNA SEQ-NG, z-score-CNV 25-jul-2017 Héritas - Multigenetic panel -- Caucasian - - - 1 Gonzalo Tabares-CEMA
-/- 9i c.1236-3dupT p.? Hetero no r.spl? - Unknown g.108250698dupT - ATM_000003 - - DNA SEQ-NG, z-score-CNV 10-ago-2017 Héritas Panel Héritas (10 genes) - -- Italian-German - - - 1 Gonzalo Tabares-CEMA
-/- 9i c.1236-3dupT p.? Hetero MLH1 r.spl? - Unknown g.108250698dupT - ATM_000003 - - DNA SEQ-NG, z-score-CNV 2-aug-2017 Héritas Panel Héritas ovario(18 genes) ATM-BRIP-CDH1-CHEK2-DICER1-EPCAM-MLH1-MSH2-MSH6-MUTYH-NBN-PALB2-PMS2-PTEN-RAD51C-RAD51D-STK11-TP53 Multigenetic panel -- Spanish-Italian - - - 1 Gonzalo Tabares-CEMA
-/- 9i c.1236-3dupT p.? Hetero no r.spl? - Unknown g.108250698dupT - ATM_000003 - - DNA SEQ-NG 19-jul-2017 Héritas Panel Héritas (12 genes) - -- Spanish - - - 1 Laura Vargas Roig-IMBECU
-/- 9i c.1236-3dupT p.? Hetero no r.spl? - Unknown g.108250698dupT - ATM_000003 - - DNA CNV, SEQ-NG 5-jul-2017 Héritas - Multigenetic panel - Argentinian - - - 1 Laura Vargas Roig-IMBECU
-?/- 9i c.1236-3dupT p.? Hetero no r.spl? - Unknown g.108250698dupT - ATM_000003 - - DNA SEQ-NG 22-nov-2019 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) Multigenetic panel - Unknown - - - 1 Laura Vargas Roig-IMBECU
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