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
Date created 2019-10-17 16:49:37 +02:00 (CEST)
Date last edited 2019-11-30 12:05:01 +01:00 (CET)
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