Genomic variant #0000285334

Individual ID 00000001
Chromosome 6
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.163899809C>T
Reference -
DB-ID QKI_000032
dbSNP ID rs1158824413
Frequency 0.013
Allele Count 6
Allele Number 472
Combined Depth 2038
Homozygous 0
Heterozygote 6
Average frequency (large NGS studies) Variant not found in online data sets
Owner Admin




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
QKI NM_006775.2 ./. - c.286-3C>T r.spl? p.?



Screenings


Screening ID

Template

Technique

Genes screened

Variants found

Owner
0000000001 DNA SEQ-NG-I - 825713 Admin