Genomic variant #0000041226

Individual ID 00020946
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.145740622C>T
Reference -
DB-ID RECQL4_000022 See all 21 reported entries
dbSNP ID rs34948955
Variant remarks -
Genetic origin Germline
Segregation -
Also Known As -
Is Greek Founder -
Geographic Origin (for founder variants) -
Average frequency (large NGS studies) Retrieve
Average frequency in greek population 0.00356
Allele Count 21
Allele Number 5900
Owner Despoina Kalfakakou
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
RECQL4 NM_004260.3 -/- - c.1395G>A - p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000006826 DNA SEQ-NG-I 1 - 7 Despoina Kalfakakou