Variant #0000598420 (NC_000023.10:g.106882538G>C, PRPS1(NM_002764.3):c.136G>C)

Individual ID 00266241
Chromosome X
Allele Maternal (confirmed)
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.106882538G>C
DNA change (hg38) g.107639308G>C
Published as -
ISCN -
DB-ID PRPS1_000034
Variant remarks -
Reference Mercati et al 2019 submitted
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Laurence Jonard
Database submission license No license selected
Created by Laurence Jonard
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PRPS1 NM_002764.3 ?/. - c.136G>C r.(?) p.(Glu46Gln)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000267362 DNA SEQ - - PRPS1 1 Laurence Jonard