Genomic variant #0000285312

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.163836376C>T
Reference -
DB-ID QKI_000010
dbSNP ID rs2757578
Frequency 0.326
Allele Count 168
Allele Number 516
Combined Depth 4682
Homozygous -
Heterozygote -
Average frequency (large NGS studies) 0.31509 View details
Owner Admin




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
QKI NM_006775.2 ./. - c.142+9C>T r.(=) p.(=)



Screenings


Screening ID

Template

Technique

Genes screened

Variants found

Owner
0000000001 DNA SEQ-NG-I - 825713 Admin