Variant #0000006097 (NC_000011.10:g.108229268A>G, ATM(NM_000051.3):c.276A>G)

Individual ID 00000892
Chromosome 11
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Probably does not affect function
DNA change (genomic) (Relative to hg38 / GRCh38) g.108229268A>G
Reference -
DB-ID ATM_000040
dbSNP ID -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Jesica Ramirez-Hospital Central de Mendoza
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 -?/-? 4 c.276A>G 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     
0000001062 DNA SEQ-NG;z-score-CNV Héritas Panel Héritas (24 genes) APC,ATM,BMPR1A,BRCA1,BRCA2MBRIP1,CDH1,CDK4,CDKN2A,CHEK2,MLH1,MSH2,MSH6,MUTYH,PMS2,NBN,NF1,PALB2,PTEN,RAD51C,RAD51D,SMAD4,STK11,TP53,EPCAM 29-oct-2018 Multigenetic panel - 5 Jesica Ramirez-Hospital Central de Mendoza