Variant #0000003284 (NC_000011.10:g.108267276T>C, ATM(NM_000051.3):c.2572T>C)

Individual ID 00000409
Chromosome 11
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg38 / GRCh38) g.108267276T>C
Reference -
DB-ID ATM_000019 See all 6 reported entries
dbSNP ID -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Gonzalo Tabares-CEMA
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     

Exon     

DNA change (cDNA)     

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Co_ocurrence     

RNA change     

Review status     
ATM NM_000051.3 -/? 17 c.2572T>C p.(Phe858Leu) Hetero no r.(?) -



Screenings


AscendingScreening ID     

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Technique     

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Date of test     

Type of test     

Genes screened     

Variants found     

Owner     
0000000462 DNA SEQ-NG;z-score-CNV Héritas - 25-jul-2017 Multigenetic panel ATM, BRCA1, BRCA2, CDH1, CHEK2, MSH6, PALB2, PTEN, RAD51D, TP53 16 Gonzalo Tabares-CEMA