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

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
Date created 2020-12-09 11:21:48 +08:00 (CST)
Date last edited 2021-09-08 12:40:53 +08:00 (CST)
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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