Full data view for gene ATM

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

4 entries on 1 page. Showing entries 1 - 4.
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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     
-/-? 30 c.4578C>T p.(=) Hetero no r.(=) - Unknown g.108292760C>T - ATM_000018 - - DNA SEQ-NG, z-score-CNV 9-nov-2017 Héritas Panel Héritas (24 genes) BRCA1-BRCA2-PTEN-TP53-ATM-CDH1-CHEK2-NBN-NF1-PALB2-STK11-BRIP1-RAD51C-RAD51D-MLH1-MSH2-MSH6-PMS2-APC-MUTYH-BMPR1A-SMAD4-CDKN2A-CDK4 Multigenetic panel - Caucasian - - - 1 Gonzalo Tabares-CEMA
-?/-? 30 c.4578C>T p.(=) Hetero no r.(=) - Unknown g.108292760C>T - ATM_000018 - - DNA SEQ-NG 8-aug-2018 Héritas Panel Héritas (25 genes) APC,ATM,BMPR1A,BRCA1,BRCA2,BRIP1,CDH1,CDK4,CDKN2A,CHEK2,MLH1,MSH2,MSH6,MUTYH,PMS2,NBN,NF1,PALB2,PTEN,RAD51C,RAD51D,SMAD4,STK11,TP53,EPCAM Multigenetic panel - Spanish - - - 1 Laura Vargas Roig-IMBECU
-/-? 30 c.4578C>T p.(=) Hetero no r.(=) - Unknown g.108292760C>T - ATM_000018 - - DNA SEQ-NG 4-may-2020 Domeq&, Lafage - Multigenetic panel Breast cancer, Thyroid cancer Italian - - Breast cancer, Thyroid cancer 1 Lina Nuñez-Hospital Alemán
-?/- 30 c.4578C>T p.(=) Hetero no r.(=) RECLASSIFIED NOVEMBER 2020 Unknown g.108292760C>T - ATM_000018 - - DNA CNV, SEQ-NG 28-apr-2020 IACA Panel (ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PTEN, RAD51C, RAD51D, STK11, TP53) Multigenetic panel Breast cancer Polish-Italian-German-Russian - - Breast cancer 1 Silvina Sisterna-Hospital de Comunidad
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