Genomic variant #0000044150

Individual ID 00022113
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.108143456C>G
Reference -
DB-ID ATM_000264 See all 4 reported entries
dbSNP ID rs1800057
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 0.00068
Allele Count 4
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.3161C>G r.(?) p.(Pro1054Arg)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000007611 DNA SEQ-NG-I 1 - 43 Stevi Xera