Variant #0000001196 (NC_000002.12:g.210612274G>A, NM_001875.4:c.2549G>A (CPS1))

Individual ID 00000238
Chromosome 2
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.210612274G>A
Published as -
Reference Ernie Zuraida Ali et al. (2016), dbSNP, ClinVar
DB-ID CPS1_000007
dbSNP ID rs767694281
Frequency 1/8
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 2020-12-09 11:35:20 +08:00 (CST)
Date last edited 2021-09-08 12:42:57 +08:00 (CST)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Published as     

RNA change     

Protein     

GVS function     

Clinical classification     
CPS1 NM_001875.4 +/. 20 c.2549G>A - r.(?) p.(Arg850His) - ClinVar



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000253 DNA PCR;SEQ CPS1 8 Nuur Athirah Binti Mohd Daud