Genomic variant #0000037117

Individual ID 00016074
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.108119809del
Reference Fostira et al (2020) 
DB-ID ATM_000053 See all 13 reported entries
dbSNP ID rs1555069815
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 0.00122
Allele Count 7
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.1215del r.(?) p.(Asn405Lysfs*15)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000004928 DNA SEQ 0 ATM, PALB2 2 Despoina Kalfakakou