Full data view for gene ATM

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

3 entries on 1 page. Showing entries 1 - 3.
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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     
?/? 29 c.4414T>G p.(Leu1472Val) Hetero no r.(4414u>g) - Unknown g.108289779T>G - ATM_000113 - - DNA SEQ-NG 23-10-20 Genda/Color Hereditary Cancer Test (30 genes) APC, ATM, BAP1, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDK4, CDKN2A (p14ARF), CDKN2A (p16INK4a), CHEK2, EPCAM, GREM1, MITF, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, POLD1, POLE, PTEN, RAD51C, RAD51D, SMAD4, STK11, TP53 Multigenetic panel N/A Albanian/Spanish-Argentinean/Italian - - Hereditary Breast and Ovarian cancer syndrome, BRCA1 and/or BRCA2 genes 1 Lina Nuñez-Hospital Alemán
?/? 29 c.4414T>G p.(Leu1472Val) Hetero no r.(4414u>g) - Unknown g.108289779T>G - ATM_000113 - - DNA SEQ-NG 06-12-19 INVITAE Invitae Multi-Cancer Panel (83 genes) Multigenetic panel Breast cancer Spanish - Spanish - - Breast cancer 1 Lina Nuñez-Private Practice
?/? 29 c.4414T>G p.(Leu1472Val) Hetero no r.(?) - Unknown g.108289779T>G - ATM_000113 rs539676759 - DNA SEQ-NG 14-mar-2024 COLOR Panel (30 genes) APC, ATM, BAP1, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDK4, CDKN2A (p14ARF), CDKN2A (p16INK4a), CHEK2, EPCAM, GREM1, MITF, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, POLE, POLD1, PTEN, RAD51C, RAD51D, SMAD4, STK11, TP53. Multigenetic panel Breast cancer Spanish - - Breast cancer 1 Guillermo Alberto-Instituto Fleming
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