Variant #0000351672 (NC_000023.10:g.106884223A>C, PRPS1(NM_002764.3):c.398A>C)

Individual ID 00151979
Chromosome X
Allele Unknown
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.106884223A>C
DNA change (hg38) g.107640993A>C
Published as c.398A>C
ISCN -
DB-ID PRPS1_000011 See all 2 reported entries
Variant remarks -
Reference PubMed: de Brouwer 2007
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PRPS1 NM_002764.3 +/. 3 c.398A>C r.(?) p.(Gln133Pro)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000152836 DNA SEQ - - PRPS1 1 Johan den Dunnen