Variant #0000003531 (NC_000011.10:g.108271243delT, ATM(NM_000051.3):c.2922-8delT)

Individual ID 00000449
Chromosome 11
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Probably does not affect function
DNA change (genomic) (Relative to hg38 / GRCh38) g.108271243delT
Reference -
DB-ID ATM_000002 See all 7 reported entries
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     

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DNA change (cDNA)     

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Review status     
ATM NM_000051.3 ./-? 19i c.2922-8delT p.(=) Hetero no r.(=) -



Screenings


AscendingScreening ID     

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Variants found     

Owner     
0000000506 DNA SEQ-NG Héritas Panel Héritas (12 genes) 19-jul-2017 - ATM, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, PALB2, PTEN, RAD51C, RAD51D, STK11, TP53 13 Laura Vargas Roig-IMBECU