Variant #0000008299 (NC_000011.10:g.108304735G>A, ATM(NM_000051.3):c.5557G>A)

Individual ID 00001495
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.108304735G>A
Reference -
DB-ID ATM_000006 See all 13 reported entries
dbSNP ID -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Silvina Sisterna-Hospital de Comunidad
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     

Zygosity     

Co_ocurrence     

RNA change     

Review status     
ATM NM_000051.3 -/- 37 c.5557G>A p.(Asp1853Asn) Hetero no r.(?) -



Screenings


AscendingScreening ID     

Template     

Technique     

Lab     

Remarks     

Date of test     

Type of test     

Genes screened     

Variants found     

Owner     
0000001764 DNA SEQ-NG CEMIC Panel (ATM, BRCA1/2, TP53, BARD1, VHEK2, PALB2, PTEN, STK11, CDH1, MLH1, MSH2, MSH6, PMS2, EPCAM, MUTYH, POLE, POLD1, NBN) 13-apr-2020 Multigenetic panel - 43 Silvina Sisterna-Hospital de Comunidad