Variant #0000002272 (NC_000005.10:g.112839627G>T, NM_000038.5:c.4033G>T (APC))

Individual ID 00000490
Chromosome 5
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.112839627G>T
Published as E1304X, E1322X
Reference dbSNP, ClinVar
DB-ID APC_000029
dbSNP ID rs1211642532
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 15:49:40 +08:00 (CST)
Date last edited 2021-08-01 13:17:07 +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.4033G>T E1304X, E1322X r.(?) p.(Glu1345*) - Pathogenic



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000536 DNA SEQ APC 3 Nuur Athirah Binti Mohd Daud