Genomic variant #0000393217

Individual ID 00172477
Chromosome X
Allele Parent #1
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.106893247C>T
DNA change (hg38) -
Published as S314S
ISCN -
DB-ID PRPS1_000030
Variant remarks found once, nonrecurrent change
Reference PubMed: Tarpey 2009
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 1/208 cases
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.00047 View details
Owner Lucy Raymond
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
PRPS1 NM_002764.3 -?/. - c.942C>T - r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000173360 DNA SEQ - - TIMP1 1 Lucy Raymond