Variant #0000000827 (NC_000023.11:g.38401401G>T, NM_000531.5:c.513G>T (OTC))

Individual ID 00000173
Chromosome X
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.38401401G>T
Published as -
Reference Ernie Zuraida Ali et al. (2018)
DB-ID OTC_000001
dbSNP ID rs12562058
Frequency 1/11
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Nuur Athirah Binti Mohd Daud
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Nuur Athirah Binti Mohd Daud
Date created 2020-11-22 11:14:49 +08:00 (CST)
Date last edited 2021-09-13 08:41:58 +08:00 (CST)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Published as     

RNA change     

Protein     

GVS function     

Clinical classification     
OTC NM_000531.5 +/. 5 c.513G>T - r.(?) p.(Gln171His) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000188 DNA PCR;SEQ OTC 11 Nuur Athirah Binti Mohd Daud