Variant #0000003191 (NC_000011.10:g.108250698dupT, ATM(NM_000051.3):c.1236-3dupT)

Individual ID 00000396
Chromosome 11
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Does not affect function
DNA change (genomic) (Relative to hg38 / GRCh38) g.108250698dupT
Reference -
DB-ID ATM_000003 See all 9 reported entries
dbSNP ID -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Gonzalo Tabares-CEMA
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     

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DNA change (cDNA)     

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RNA change     

Review status     
ATM NM_000051.3 -/- 9i c.1236-3dupT p.? Hetero BRCA1 r.spl? -



Screenings


AscendingScreening ID     

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Owner     
0000000449 DNA SEQ-NG;z-score-CNV Héritas - 21-jul-2017 Multigenetic panel ATM, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, PALB2, PTEN, RAD51C, RAD51D, STK11, TP53 28 Gonzalo Tabares-CEMA