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     
-/-? 36i c.5497-8T>C p.(=) Hetero no r.(=) - Unknown g.108304667T>C - ATM_000011 - - DNA SEQ-NG, z-score-CNV 29-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 - - Spanish - - - 1 Alejandra Mampel-Hospital Universitario de Mendoza
-/-? 36i c.5497-8T>C p.(=) Hetero BRCA1 r.(=) - Unknown g.108304667T>C - ATM_000011 - - DNA SEQ-NG, z-score-CNV 21-jul-2017 Héritas - Multigenetic panel -- Caucasian - - - 1 Gonzalo Tabares-CEMA
-?/- 36i c.5497-8T>C p.(=) Hetero no r.(=) RECLASSIFIED JULY 2022 Unknown g.108304667T>C - ATM_000011 - - DNA CNV, SEQ-NG 15-jul-2020 IACA Panel (ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, PTEN, RAD51C, RAD51D, STK11, TP53) Multigenetic panel - Italian - - - 1 Silvina Sisterna-Hospital de Comunidad
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