Genomic variant #0000409114

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.71154671C>G
Reference -
DB-ID HK1_000064
dbSNP ID rs138069623
Frequency 0.001938
Allele Count 1
Allele Number 516
Combined Depth 3227
Homozygous -
Heterozygote -
Average frequency (large NGS studies) 0.00208 View details
Owner Admin




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
HK1 NM_000188.2 ./. - c.2220-35C>G r.(=) p.(=)



Screenings


Screening ID

Template

Technique

Genes screened

Variants found

Owner
0000000001 DNA SEQ-NG-I - 825713 Admin