Variant #0000006285 (NC_000011.10:g.108312440G>A, ATM(NM_000051.3):c.5948G>A)

Individual ID 00000939
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 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     

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 BRCA1 r.(?) -



Screenings


AscendingScreening ID     

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Variants found     

Owner     
0000001133 DNA CNVs;SEQ-NG IACA - 14-mar-2019 Multigenetic panel ATM, BRCA1, BRCA2, CDH1, CHEK2, NBN, PALB2, PTEN, TP53 13 Silvina Sisterna-Hospital de Comunidad