Variant #0000598419 (NC_000023.10:g.106882608A>C, PRPS1(NM_002764.3):c.206A>C)

Individual ID 00266240
Chromosome X
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic (dominant)
DNA change (genomic) (Relative to hg19 / GRCh37) g.106882608A>C
DNA change (hg38) g.107639378A>C
Published as -
ISCN -
DB-ID PRPS1_000035
Variant remarks de novo in patient
Reference Mercati et al 2019 submitted
ClinVar ID -
dbSNP ID -
Origin De novo
Segregation -
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 16:44:51 +02:00 (CEST)
Date last edited 2019-10-18 15:09:00 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PRPS1 NM_002764.3 +?/. - c.206A>C r.(?) p.(Glu69Ala)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000267361 DNA SEQ-NG - WES - 1 Laurence Jonard