Variant #0000002275 (NC_000005.10:g.112839625C>G, NM_000038.5:c.4031C>G (APC))

Individual ID 00000492
Chromosome 5
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.112839625C>G
Published as S1326X, S1344X
Reference dbSNP, ClinVar
DB-ID APC_000031
dbSNP ID rs1114167578
Frequency 1/10
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 2021-03-08 16:22:10 +08:00 (CST)
Date last edited 2021-08-01 13:17:28 +08:00 (CST)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Published as     

RNA change     

Protein     

GVS function     

Clinical classification     
APC NM_000038.5 +/. - c.4031C>G S1326X, S1344X r.(?) p.(Ser1344*) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000538 DNA SEQ APC 1 Nuur Athirah Binti Mohd Daud