Variant #0000001194 (NC_000002.12:g.210612132C>G, CPS1(NM_001875.4):c.2407C>G)

Individual ID 00000238
Chromosome 2
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.210612132C>G
Published as -
Reference Ernie Zuraida Ali et al. (2016) , dbSNP, ClinVar
DB-ID CPS1_000005
dbSNP ID rs201716417
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
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.2407C>G - r.(?) p.(Arg803Gly) - ClinVar



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

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