Variant #0000683199 (NC_000023.10:g.106882532A>G, PRPS1(NM_002764.3):c.130A>G)

Individual ID 00307646
Chromosome X
Allele Maternal (confirmed)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.106882532A>G
DNA change (hg38) -
Published as -
ISCN -
DB-ID PRPS1_000045
Variant remarks -
Reference PubMed: Puusepp 2020, Journal: Puusepp 2020
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency absent from gnomAD
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Sander Pajusalu
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Sander Pajusalu
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PRPS1 NM_002764.3 +/. 2 c.130A>G r.(?) p.(Ile44Val)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000308787 DNA SEQ-NG-I Blood TruSight One panel (4800 genes) - 1 Sander Pajusalu