Genomic variant #0000008302

Individual ID 00021152
Chromosome 8
Allele Parent #2
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg19 / GRCh37) g.145736954_145736955insAC
Reference -
DB-ID RECQL4_000033 See all 12 reported entries
dbSNP ID -
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 0.00209
Allele Count 12
Allele Number 5752
Owner Despoina Kalfakakou
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
RECQL4 NM_004260.3 ?/? - c.3504-17_3504-16insGT - p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000224 DNA SEQ-NG-I 1 - 8 Despoina Kalfakakou