Genomic variant #0000043513

Individual ID 00022090
Chromosome 8
Allele Both (homozygous)
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.145737636A>G
Reference -
DB-ID RECQL4_000235 See all 74 reported entries
dbSNP ID rs4925828
Variant remarks -
Genetic origin -
Segregation -
Also Known As -
Is Greek Founder -
Geographic Origin (for founder variants) -
Average frequency (large NGS studies) Retrieve
Average frequency in greek population 0.02492
Allele Count 147
Allele Number 5900
Owner Stevi Xera
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
RECQL4 NM_004260.3 ./. - c.3128T>C - p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000007588 DNA SEQ-NG-I 1 - 58 Stevi Xera