Genomic variant #0000028768

Individual ID 00020459
Chromosome 11
Allele Parent #1
Affects function (as reported) Does not affect function
Affects function (by curator) Does not affect function
DNA change (genomic) (Relative to hg19 / GRCh37) g.108151709dup
Reference -
DB-ID ATM_000092 See all 11 reported entries
dbSNP ID rs3218681
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 0.00191
Allele Count 11
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.3403-13dup r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001539 DNA SEQ-NG-I 1 - 13 Despoina Kalfakakou