Variant #0000005811 (NC_000011.10:g.108280980dupT, ATM(NM_000051.3):c.3403-15dupT)

Individual ID 00000838
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.108280980dupT
Reference -
DB-ID ATM_000037
dbSNP ID -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Lina Nuñez-Private Practice
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Instituto Nacional del Cancer
Options




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 -/- 23i c.3403-15dupT p.(=) Hetero no r.(=) Other names: c.3403-15_3403-14insT



Screenings


AscendingScreening ID     

Template     

Technique     

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Date of test     

Type of test     

Genes screened     

Variants found     

Owner     
0000000991 DNA SEQ-NG CEMIC - 21-mar-2019 Multigenetic panel ATM, BRCA1, BRCA2, CHEK2, NBN, PALB2, PTEN, STK11, TP53 18 Lina Nuñez-Private Practice