Variant #0000002018 (NC_000005.10:g.112840049delT, NM_000038.5:c.4455delT (APC))

Individual ID 00000428
Chromosome 5
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.112840049delT
Published as -
Reference Abdul SN et al.(2017)
DB-ID APC_000026
dbSNP ID rs113994134
Frequency -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Nur Aisyah Athirah
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Nur Aisyah Athirah
Date created 2021-02-18 09:46:12 +08:00 (CST)
Date last edited 2021-09-08 14:54:19 +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     
APC NM_000038.5 +/. - c.4455delT - r.(?) p.(Asp1486Ilefs*21) - -
APC NM_001127511.2 +/. - c.4401delT - r.(?) p.(Asp1468Ilefs*21) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000458 DNA SEQ APC 4 Nur Aisyah Athirah