Genomic variant #0000409067

Individual ID 00000001
Chromosome 10
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.71103771C>A
Reference -
DB-ID HK1_000017
dbSNP ID rs74566009
Frequency 0.003876
Allele Count 2
Allele Number 516
Combined Depth 5038
Homozygous -
Heterozygote -
Average frequency (large NGS studies) 0.00554 View details
Owner Admin




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
HK1 NM_000188.2 ./. - c.226+26C>A r.(=) p.(=)



Screenings


Screening ID

Template

Technique

Genes screened

Variants found

Owner
0000000001 DNA SEQ-NG-I - 825713 Admin