Variant #0000008984 (NC_000011.10:g.108304822C>T, ATM(NM_000051.3):c.5644C>T)

Individual ID 00001662
Chromosome 11
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg38 / GRCh38) g.108304822C>T
Reference -
DB-ID ATM_000085
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
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Variant on transcripts


Gene     

AscendingTranscript     

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DNA change (cDNA)     

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RNA change     

Review status     
ATM NM_000051.3 +/+ 37 c.5644C>T p.(Arg1882*) Hetero N/A r.(?) -



Screenings


AscendingScreening ID     

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Variants found     

Owner     
0000001937 DNA SEQ-NG Color Hereditary Cancer Test (30 genes) APC, ATM, BAP1, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDK4, CDKN2A (p14ARF), CDKN2A (p16INK4a), CHEK2, EPCAM, GREM1, MITF, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, POLD1, POLE, PTEN, RAD51C, RAD51D, SMAD4, STK11, TP53 09-dec-2020 Multigenetic panel - 2 Silvina Sisterna-Hospital de Comunidad