Variant #0000000833 (NC_000023.11:g.38367361G>T, OTC(NM_000531.5):c.148G>T)

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.38367361G>T
Published as c.148 T>G
Reference Ernie Zuraida Ali et al. (2018), dbSNP, (OMIM 0017) ClinVar
DB-ID OTC_000007
dbSNP ID rs67486158
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
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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 +/. 2 c.148G>T - r.(?) p.(Gly50*) - ClinVar



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

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