Variant #0000009165 (NC_000011.10:g.108248977C>G, ATM(NM_000051.3):c.1110C>G)

Individual ID 00001833
Chromosome 11
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg38 / GRCh38) g.108248977C>G
Reference -
DB-ID ATM_000096 See all 2 reported entries
dbSNP ID -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Pablo Kalfayan-Hospital Italiano
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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Review status     
ATM NM_000051.3 +/+ 11 c.1110C>G p.(Tyr370*) Hetero N/A r.(?) -



Screenings


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Variants found     

Owner     
0000002118 DNA SEQ-NG Invitae Invitae Comphehensive carier screen 06-jul-2021 Multigenetic panel - 1 Pablo Kalfayan-Hospital Italiano