Genomic variant #0000019509

Individual ID 00016912
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.108214075_108214084del
Reference Fostira et al (2020) 
DB-ID ATM_000106 See all 2 reported entries
dbSNP ID rs786202800
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 0.00035
Allele Count 2
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.8395_8404del r.(?) p.(Phe2799Lysfs*4)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000664 DNA SEQ-NG-I 1 - 10 Despoina Kalfakakou