Variant #0000796592 (NC_000023.10:g.106884197T>G, PRPS1(NM_002764.3):c.372T>G)

Chromosome X
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.106884197T>G
DNA change (hg38) -
Published as -
ISCN -
DB-ID PRPS1_000050
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner MobiDetails
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by MobiDetails
Date created 2021-08-30 18:09:01 +02:00 (CEST)
Date last edited 2022-09-26 12:22:42 +02:00 (CEST)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PRPS1 NM_002764.3 +?/. - c.372T>G r.(?) p.(Ile124Met)