Genomic variant #0000285303

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.163835808C>A
Reference -
DB-ID QKI_000001
dbSNP ID rs1027336444
Frequency 0.01
Allele Count 5
Allele Number 488
Combined Depth 1783
Homozygous 1
Heterozygote 3
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.-418C>A r.(=) p.(=)



Screenings


Screening ID

Template

Technique

Genes screened

Variants found

Owner
0000000001 DNA SEQ-NG-I - 825713 Admin