Variant #0000394139 (NC_000023.10:g.74516230G>A, UPRT(NM_145052.3):c.483G>A)

Individual ID 00173016
Chromosome X
Allele Parent #1
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.74516230G>A
DNA change (hg38) g.75296395G>A
Published as -
ISCN -
DB-ID UPRT_000020
Variant remarks found once, nonrecurrent change
Reference PubMed: Tarpey 2009
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 1/208 cases
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Lucy Raymond
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
UPRT NM_145052.3 ?/. - c.483G>A r.(?) p.(Met161Ile)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000173899 DNA SEQ - - FAM123B 1 Lucy Raymond