Genomic variant #0000028465

Individual ID 00020831
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.30938513A>G
Reference -
DB-ID WRN_000018 See all 56 reported entries
dbSNP ID rs1800390
Genetic origin -
Segregation -
Is Greek Founder -
Average frequency (large NGS studies) Variant not found in online data sets
Average frequency in greek population 0.01006
Owner Despoina Kalfakakou
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
WRN NM_000553.4 ./. - c.970A>G r.(?) p.(Thr324Ala)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001511 DNA SEQ-NG-I 1 - 16 Despoina Kalfakakou