Variant #0000008043 (NC_000011.10:g.108312440G>A, ATM(NM_000051.3):c.5948G>A)

Individual ID 00001439
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.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 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     

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DNA change (cDNA)     

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RNA change     

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



Screenings


AscendingScreening ID     

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Variants found     

Owner     
0000001693 DNA CNV;SEQ-NG Héritas - 5-jul-2017 Multigenetic panel ATM, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, PALB2, PTEN, RAD51C, RAD51D, STK11, TP53 16 Laura Vargas Roig-IMBECU