Variant #0000001193 (NC_000002.12:g.210663174delT, CPS1(NM_001875.4):c.3979delT)

Individual ID 00000238
Chromosome 2
Allele Both (homozygous)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.210663174delT
Published as -
Reference Ernie Zuraida Ali et al. (2016)
DB-ID CPS1_000004
dbSNP ID -
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
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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 +/. 33 c.3979delT - r.(?) p.(Cys1327Valfs*21) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

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