Genomic variant #0000409107

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.71149232A>G
Reference -
DB-ID HK1_000057
dbSNP ID rs1214394738
Frequency 0.092
Allele Count 26
Allele Number 282
Combined Depth 2865
Homozygous 2
Heterozygote 22
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.2035+180A>G r.(=) p.(=)



Screenings


Screening ID

Template

Technique

Genes screened

Variants found

Owner
0000000001 DNA SEQ-NG-I - 825713 Admin