Variant #0000007530 (NC_000011.10:g.108272729C>G, ATM(NM_000051.3):c.3161C>G)

Individual ID 00001295
Chromosome 11
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Does not affect function
DNA change (genomic) (Relative to hg38 / GRCh38) g.108272729C>G
Reference -
DB-ID ATM_000016 See all 7 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
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

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DNA change (cDNA)     

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RNA change     

Review status     
ATM NM_000051.3 ./- 24 c.3161C>G p.(Pro1054Arg) Not specified no r.(?) -



Screenings


AscendingScreening ID     

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Variants found     

Owner     
0000001534 DNA CNV;SEQ-NG IACA - 24-sep-2019 Multigenetic panel ATM, BRCA1, BRCA2, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, NBN, PALB2, PMS2, PTEN, STK11, TP53 25 Silvina Sisterna-Hospital de Comunidad