Genomic variant #0000811066

Individual ID 00000001
Chromosome X
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.24483551T>C
Reference -
DB-ID PDK3_000001
dbSNP ID rs72623011
Frequency 0.095
Allele Count 49
Allele Number 516
Combined Depth 8323
Homozygous -
Heterozygote -
Average frequency (large NGS studies) Retrieve
Owner Admin




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PDK3 NM_005391.4 ./. - c.-22T>C r.(=) p.(=)



Screenings


Screening ID

Template

Technique

Genes screened

Variants found

Owner
0000000001 DNA SEQ-NG-I - 825713 Admin