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.
Legend   How to query  

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     
?/? 47 c.6974C>T p.(Ala2325Val) Hetero no r.(?) - Unknown g.108326224C>T - ATM_000061 - - DNA SEQ-NG 26-sep-2018 IACA CNV analysis of BRCA1, BRCA2, PALB2, RAD51D, RAD51C and TP53 Multigenetic panel Breast cancer Spanish-Argentinian - - Breast cancer 1 Silvina Sisterna-Hospital de Comunidad
?/? 47 c.6974C>T p.(Ala2325Val) Hetero no r.(6974c>u) - Unknown g.108326224C>T - ATM_000061 - - DNA SEQ-NG 14-jun-2022 Fundación para el Progreso de la Medicina PANEL CANCER DE COLON (21 genes): APC, ATM, BLM, BMPR1A, BUB1B, CEP57, CDH1, CHEK2, EPCAM, FLCN, MLH1, MSH2, MSH6, MUTYH, PMS2, POLD1, POLE, PTEN, SMAD4, STK11, TP53 Multigenetic panel Colon cancer French/Spanish-Portuguese/Spanish - - Colon cancer 1 Norma Rossi - Sanatorio Allende
?/? 47 c.6974C>T p.(Ala2325Val) Hetero ERCC5 r.(6974c>u) - Unknown g.108326224C>T - ATM_000061 - - DNA SEQ-NG 1-nov-2022 Fundación para el Progreso de la Medicina Panel Cancer Hereditario (104 genes) Multigenetic panel Colon cancer French/Spanish-Portuguese/Spanish - - Colon cancer 1 Norma Rossi - Sanatorio Allende
Legend   How to query