Variant #0000008270 (NC_000011.10:g.108304735G>A, ATM(NM_000051.3):c.5557G>A)

Individual ID 00001490
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.108304735G>A
Reference -
DB-ID ATM_000006 See all 13 reported entries
dbSNP ID -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Erika Stegmayer-Inst. Nuestra Señora de las Mercedes
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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Review status     
ATM NM_000051.3 -/- 37 c.5557G>A p.(Asp1853Asn) Hetero no r.(?) -



Screenings


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Owner     
0000001759 DNA SEQ-NG CEMIC - 25-sep-2019 Multigenetic panel ATM, BARD1, BRCA1, BRCA2, CDH1, CHEK2, PALB2, PTEN, RAD51D, TP53 20 Erika Stegmayer-Inst. Nuestra Señora de las Mercedes