Genomic variant #0000409092

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.71144263G>A
Reference -
DB-ID HK1_000042
dbSNP ID rs56299619
Frequency 0.037
Allele Count 19
Allele Number 516
Combined Depth 7131
Homozygous -
Heterozygote -
Average frequency (large NGS studies) 0.03983 View details
Owner Admin




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
HK1 NM_000188.2 ./. - c.1719+26G>A r.(=) p.(=)



Screenings


Screening ID

Template

Technique

Genes screened

Variants found

Owner
0000000001 DNA SEQ-NG-I - 825713 Admin