Variant #0000008426 (NC_000011.10:g.108312440G>A, ATM(NM_000051.3):c.5948G>A)

Individual ID 00001499
Chromosome 11
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Does not affect function
DNA change (genomic) (Relative to hg38 / GRCh38) g.108312440G>A
Reference -
DB-ID ATM_000004 See all 35 reported entries
dbSNP ID -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Silvina Sisterna-Hospital de Comunidad
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     

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ATM NM_000051.3 ./- 40 c.5948G>A p.(Ser1983Asn) Homo no r.(?) -



Screenings


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Owner     
0000001768 DNA CNV;SEQ-NG IACA Panel (ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, PTEN, RAD51C, RAD51D, STK11, TP53) 15-jul-2020 Multigenetic panel - 44 Silvina Sisterna-Hospital de Comunidad