Genomic variant #0000000438

Individual ID 00015529
Chromosome 11
Allele Parent #2
Affects function (as reported) Probably does not affect function
Affects function (by curator) Probably does not affect function
DNA change (genomic) (Relative to hg19 / GRCh37) g.108188136G>A
Reference -
DB-ID ATM_000006 See all 11 reported entries
dbSNP ID rs1800060
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.6235G>A r.(?) p.(Val2079Ile)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000010 DNA SEQ-NG-I 1 - 12 Despoina Kalfakakou