Genomic variant #0000021322

Individual ID 00017088
Chromosome 8
Allele Parent #2
Affects function (as reported) Does not affect function
Affects function (by curator) Does not affect function
DNA change (genomic) (Relative to hg19 / GRCh37) g.30916058A>G
Reference -
DB-ID WRN_000019 See all 13 reported entries
dbSNP ID rs34477820
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 0.00335
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     
0000000811 DNA SEQ-NG-I 1 - 7 Despoina Kalfakakou