Genomic variant #0000036318

Individual ID 00017990
Chromosome 8
Allele Parent #2
Affects function (as reported) Probably does not affect function
Affects function (by curator) Probably does not affect function
DNA change (genomic) (Relative to hg19 / GRCh37) g.30924558A>C
Reference -
DB-ID WRN_000040 See all 15 reported entries
dbSNP ID rs367991517
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 0.00261
Allele Count 15
Allele Number 5752
Owner Despoina Kalfakakou
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
WRN NM_000553.4 -?/-? - c.514A>C r.(?) p.(Thr172Pro)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000002242 DNA SEQ-NG-I 1 - 8 Despoina Kalfakakou