Genomic variant #0000029636

Individual ID 00020958
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.108122611del
Reference -
DB-ID ATM_000142 See all 6 reported entries
dbSNP ID rs1057516876
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 0.00052
Allele Count 3
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.1655del r.(?) p.(Pro552Glnfs*4)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001617 DNA SEQ-NG-I 1 - 13 Despoina Kalfakakou