Genomic variant #0000409054

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.71098142C>G
Reference -
DB-ID HK1_000004
dbSNP ID rs116274613
Frequency 0.003876
Allele Count 2
Allele Number 516
Combined Depth 2005
Homozygous -
Heterozygote -
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     
HK1 NM_000188.2 ./. - c.64-5441C>G r.(=) p.(=)



Screenings


Screening ID

Template

Technique

Genes screened

Variants found

Owner
0000000001 DNA SEQ-NG-I - 825713 Admin