Variant #0000003568 (NC_000011.10:g.108250698del, ATM(NM_000051.3):c.1236-3del)

Individual ID 00000453
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.108250698del
Reference -
DB-ID ATM_000120
dbSNP ID -
Variant remarks -
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)     

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Co_ocurrence     

RNA change     

Review status     
ATM NM_000051.3 -?/- 9i c.1236-3del p.? Hetero no r.spl? RECLASSIFIED JULY 2022



Screenings


AscendingScreening ID     

Template     

Technique     

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Remarks     

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Type of test     

Genes screened     

Variants found     

Owner     
0000000510 DNA SEQ-NG Héritas Panel Héritas (12 genes) 14-aug-2017 - ATM, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, PALB2, PTEN, RAD51C, RAD51D, STK11, TP53 5 Laura Vargas Roig-IMBECU