Genomic variant #0000027074

Individual ID 00020099
Chromosome 8
Allele Parent #2
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.30916058A>G
Reference -
DB-ID WRN_000019 See all 13 reported entries
dbSNP ID rs34477820
Genetic origin -
Segregation -
Is Greek Founder -
Average frequency (large NGS studies) Variant not found in online data sets
Average frequency in greek population 0.00335
Owner Despoina Kalfakakou
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
WRN NM_000553.4 ./. - c.95A>G r.(?) p.(Lys32Arg)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001389 DNA SEQ-NG-I 1 - 15 Despoina Kalfakakou