Genomic variant #0000034543

Individual ID 00021784
Chromosome 8
Allele Parent #2
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg19 / GRCh37) g.30915988A>G
Reference -
DB-ID WRN_000048 See all 10 reported entries
dbSNP ID rs757791580
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 0.00169
Allele Count 10
Allele Number 5900
Owner Despoina Kalfakakou
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
WRN NM_000553.4 ?/? - c.25A>G r.(?) p.(Thr9Ala)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000002064 DNA SEQ-NG-I 1 - 6 Despoina Kalfakakou