Variant #0000001974 (NC_000011.10:g.108279482del, ATM(NM_000051.3):c.3285-9del)

Individual ID 00000225
Chromosome 11
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Probably affects function
DNA change (genomic) (Relative to hg38 / GRCh38) g.108279482del
Reference -
DB-ID ATM_000060 See all 7 reported entries
dbSNP ID -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Lina Nuñez-Hospital Alemán
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)     

Protein     

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Co_ocurrence     

RNA change     

Review status     
ATM NM_000051.3 -/-? 22i c.3285-9del p.(=) Hetero no r.(=) -



Screenings


AscendingScreening ID     

Template     

Technique     

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Remarks     

Date of test     

Type of test     

Genes screened     

Variants found     

Owner     
0000000259 DNA SEQ-NG;z-score-CNV Héritas Panel Héritas (9 genes) 12-jan-2017 - ATM, BRCA1, BRCA2, CDH1, CHEK2, PALB2, PTEN, STK11, TP53 18 Lina Nuñez-Hospital Alemán