Variant #0000351667 (NC_000023.10:g.106884162G>T, PRPS1(NM_002764.3):c.337G>T)

Individual ID 00151974
Chromosome X
Allele Maternal (confirmed)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.106884162G>T
DNA change (hg38) g.107640932G>T
Published as c.337G>T
ISCN -
DB-ID PRPS1_000019 See all 2 reported entries
Variant remarks variant absent in 123 Italian normal-hearing controls, 1000 Genome Project, and NHLBIExome Variant Server
Reference PubMed: Robusto 2015
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Giulia Soldà
Database submission license No license selected
Created by Giulia Soldà
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PRPS1 NM_002764.3 +/. 3 c.337G>T r.(?) p.(Ala113Ser)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000152831 DNA SEQ-NG-I - - PRPS1 1 Giulia Soldà