Genomic variant #0000818897

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.106885687C>T
Reference -
DB-ID PRPS1_000003
dbSNP ID rs888601981
Frequency 0.001938
Allele Count 1
Allele Number 516
Combined Depth 6930
Homozygous 0
Heterozygote 1
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.-82-2720C>T r.(=) p.(=)



Screenings


Screening ID

Template

Technique

Genes screened

Variants found

Owner
0000000001 DNA SEQ-NG-I - 825713 Admin