Genomic variant #0000014458

Individual ID 00016714
Chromosome 11
Allele Parent #2
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.108206638C>T
Reference Fostira et al (2020) 
DB-ID ATM_000075 See all 2 reported entries
dbSNP ID rs866402530
Variant remarks -
Genetic origin Germline
Segregation -
Also Known As -
Is Greek Founder -
Geographic Origin (for founder variants) -
Average frequency (large NGS studies) Variant not found in online data sets
Average frequency in greek population 0.00017
Allele Count 1
Allele Number 5758
Owner Despoina Kalfakakou
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ATM NM_000051.3 +/+ - c.8218C>T r.(?) p.(Gln2740*)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000373 DNA SEQ-NG-I 1 - 10 Despoina Kalfakakou