Genomic variant #0000811075

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.24523517T>C
Reference -
DB-ID PDK3_000010
dbSNP ID rs41311505
Frequency 0.064
Allele Count 32
Allele Number 500
Combined Depth 1656
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.595+102T>C r.(=) p.(=)



Screenings


Screening ID

Template

Technique

Genes screened

Variants found

Owner
0000000001 DNA SEQ-NG-I - 825713 Admin