Genomic variant #0000044387

Individual ID 00022118
Chromosome 11
Allele Parent #2
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.108201108T>G
Reference -
DB-ID ATM_000003 See all 35 reported entries
dbSNP ID rs56399857
Variant remarks -
Genetic origin -
Segregation -
Also Known As -
Is Greek Founder -
Geographic Origin (for founder variants) -
Average frequency (large NGS studies) Retrieve
Average frequency in greek population 0.00559
Allele Count 33
Allele Number 5906
Owner Stevi Xera
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ATM NM_000051.3 ./. - c.7475T>G r.(?) p.(Leu2492Arg)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000007616 DNA SEQ-NG-I 1 - 31 Stevi Xera