Variant #0000001941 (NC_000011.10:g.108312440G>A, ATM(NM_000051.3):c.5948G>A)

Individual ID 00000184
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 Alejandra Mampel-Hospital Universitario de Mendoza
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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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     
0000000209 DNA SEQ-NG;z-score-CNV Héritas Panel Héritas (12 genes) 23-may-2017 - ATM, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, PALB2, PTEN, RAD51C, RAD51D, STK11, TP53 21 Alejandra Mampel-Hospital Universitario de Mendoza