Genomic variant #0000018135

Individual ID 00016828
Chromosome 8
Allele Parent #2
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.145741960C>T
Reference -
DB-ID RECQL4_000084 See all 15 reported entries
dbSNP ID rs34159914
Genetic origin -
Segregation -
Is Greek Founder -
Average frequency (large NGS studies) Variant not found in online data sets
Average frequency in greek population 0.0026
Owner Despoina Kalfakakou
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
RECQL4 NM_004260.3 ./. - c.543G>A - p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000546 DNA SEQ-NG-I 1 - 14 Despoina Kalfakakou