Genomic variant #0000043981

Individual ID 00022108
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


Gene RECQL4
Transcript ID NM_004260.3
Affects function (as reported) Not classified
Affects function (by curator) Not classified
Exon -
DNA change (cDNA) c.3128T>C
RNA change -
Protein p.?


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     
0000007606 DNA SEQ-NG-I 1 - 46 Stevi Xera