Variant #0000000202 (NC_000011.9:g.108183194A>C, NM_000051.3:c.5975A>C (ATM))

Chromosome 11
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg19 / GRCh37) g.108183194A>C
Reference -
DB-ID ATM_000008 See all 2 reported entries
Frequency -
Average frequency (gnomAD v.2.1.1) 0.00037 View details
Owner Florian Bayersdorfer
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Florian Bayersdorfer
Date created 2023-06-27 12:30:59 +00:00 (UTC)
Date last edited N/A
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ATM NM_000051.3 ?/? 47 c.5975A>C r.(?) p.(Lys1992Thr)