Genomic variant #0000014839

Individual ID 00016723
Chromosome 11
Allele Parent #2
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg19 / GRCh37) g.108201108T>G
Reference -
DB-ID ATM_000003 See all 35 reported entries
dbSNP ID rs56399857
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 0.00559
Allele Count 33
Allele Number 5906
Owner Despoina Kalfakakou
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ATM NM_000051.3 ?/? - c.7475T>G r.(?) p.(Leu2492Arg)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000382 DNA SEQ-NG-I 1 - 5 Despoina Kalfakakou