Variant #0000006122 (NC_000011.10:g.108268456A>G, ATM(NM_000051.3):c.2685A>G)

Individual ID 00000901
Chromosome 11
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Does not affect function
DNA change (genomic) (Relative to hg38 / GRCh38) g.108268456A>G
Reference Reclassified November 2020
DB-ID ATM_000047
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Laura Vargas Roig-IMBECU
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Instituto Nacional del Cancer
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Protein     

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Co_ocurrence     

RNA change     
ATM NM_000051.3 -?/- 18 c.2685A>G p.(=) Hetero no r.(=)



Screenings


AscendingScreening ID     

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Variants found     

Owner     
0000001078 DNA SEQ-NG Héritas Panel Héritas (25 genes) APC,ATM,BMPR1A,BRCA1,BRCA2,BRIP1,CDH1,CDK4,CDKN2A,CHEK2,MLH1,MSH2,MSH6,MUTYH,NBN,NF1,PALB2,PTEN,RAD51C,RAD51D,SMAD4,STK11,TP53,EPCAM 16-may-2018 Multigenetic panel - 9 Laura Vargas Roig-IMBECU