Variant #0000000829 (NC_000023.11:g.38381342G>A, NM_000531.5:c.299G>A (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.38381342G>A
Published as -
Reference Ernie Zuraida Ali et al. (2018), dbSNP, ClinVar
DB-ID OTC_000003
dbSNP ID rs72554349
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 11:23:03 +08:00 (CST)
Date last edited 2021-08-23 11:44:13 +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 +/. 4 c.299G>A - r.(?) p.(Gly100Asp) - ClinVar



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

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