Genomic variant #0000818895

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.106872017T>G
Reference -
DB-ID PRPS1_000001
dbSNP ID rs193273254
Frequency 0.014
Allele Count 7
Allele Number 516
Combined Depth 7864
Homozygous -
Heterozygote -
Average frequency (large NGS studies) Retrieve
Owner Admin




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PRPS1 NM_001204402.1 ./. - c.-83+37T>G r.(=) p.(=)



Screenings


Screening ID

Template

Technique

Genes screened

Variants found

Owner
0000000001 DNA SEQ-NG-I - 825713 Admin