Variant #0000003221 (NC_000011.10:g.108292760C>T, ATM(NM_000051.3):c.4578C>T)

Individual ID 00000399
Chromosome 11
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Probably does not affect function
DNA change (genomic) (Relative to hg38 / GRCh38) g.108292760C>T
Reference -
DB-ID ATM_000018 See all 4 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     

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DNA change (cDNA)     

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RNA change     

Review status     
ATM NM_000051.3 -/-? 30 c.4578C>T p.(=) Hetero no r.(=) -



Screenings


AscendingScreening ID     

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Variants found     

Owner     
0000000451 DNA SEQ-NG;z-score-CNV Héritas Panel Héritas (24 genes) BRCA1-BRCA2-PTEN-TP53-ATM-CDH1-CHEK2-NBN-NF1-PALB2-STK11-BRIP1-RAD51C-RAD51D-MLH1-MSH2-MSH6-PMS2-APC-MUTYH-BMPR1A-SMAD4-CDKN2A-CDK4 9-nov-2017 Multigenetic panel - 3 Gonzalo Tabares-CEMA