Variant #0000001197 (NC_000002.12:g.210600647C>T, NM_001875.4:c.1642C>T (CPS1))

Individual ID 00000239
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.210600647C>T
Published as -
Reference Ernie Zuraida Ali et al. (2016)
DB-ID CPS1_000008
dbSNP ID rs397514730
Frequency 1/2
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 11:42:37 +08:00 (CST)
Date last edited 2021-09-08 12:37:35 +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 +/. 15 c.1642C>T - r.(?) p.(Gln548*) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000254 DNA PCR;SEQ CPS1 2 Nuur Athirah Binti Mohd Daud