Genomic variant #0000335110

Chromosome X
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.106890830C>T
DNA change (hg38) -
Published as PRPS1(NM_001204402.1):c.93-6C>T (p.(=))
ISCN -
DB-ID PRPS1_000027
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 9.0E-5 View details
Owner VKGL-NL
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
PRPS1 NM_002764.3 ?/. - c.705-6C>T VUS r.(=) p.(=)