Variant #0000000839 (NC_000023.11:g.38401310G>A, OTC(NM_000531.5):c.422G>A)

Individual ID 00000174
Chromosome X
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.38401310G>A
Published as -
Reference Ernie Zuraida Ali et al. (2018), dbSNP, (OMIM 0002) ClinVar
DB-ID OTC_000011 See all 2 reported entries
dbSNP ID rs68026851
Frequency 1/5
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
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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.422G>A - r.(?) p.(Arg141Gln) - ClinVar



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000189 DNA PCR;SEQ OTC 4 Nuur Athirah Binti Mohd Daud