Genomic variant #0000598419

Individual ID 00266240
Chromosome X
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
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 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Laurence Jonard
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

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



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

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