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     
-/-? 37 c.5558A>T p.(Asp1853Val) Hetero PALB2 r.(?) - Unknown g.108304736A>T - ATM_000039 - - DNA CNVs, SEQ-NG 30-oct-2018 Hospital Privado Centro Médico de Córdoba Panel breast&, ovarian 24 genes (ATM, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, CDC73, DICER1, EPCAM, FANCC, MLH1, MSH2, MSH6, MUTYH, NBN, NF1, PMS2, PTEN, RAD51C, RAD51D, STK11, SDHB, SDHD, TP53) Multigenetic panel -- Argentinian - - - 1 Cecilia Montes-IMGO
-?/-? 37 c.5558A>T p.(Asp1853Val) Hetero no r.(?) - Unknown g.108304736A>T - ATM_000039 - - DNA CNV, SEQ-NG 16-aug-2019 IACA Panel (APC, ATM, BMPR1A, BRCA1, BRCA2, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, PTEN, SMAD4, STK11, TP53, VHL) Multigenetic panel Breast cancer, Kidney cancer Spanish-Italian - - Breast cancer, Kidney cancer 1 Silvina Sisterna-Hospital de Comunidad
./-? 37 c.5558A>T p.(Asp1853Val) Hetero no r.(?) - Unknown g.108304736A>T - ATM_000039 - - 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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