Variant #0000319320 (NC_000023.10:g.74494227G>C, UPRT(NM_145052.3):c.138G>C)

Chromosome X
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.74494227G>C
DNA change (hg38) g.75274392G>C
Published as UPRT(NM_001307944.1):c.138G>C (p.R46S)
ISCN -
DB-ID UPRT_000018
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 2.0E-5 View details
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
UPRT NM_145052.3 -?/. - c.138G>C r.(?) p.(Arg46Ser)