Variant #0000000924 (NC_000005.10:g.112840047del, NM_000038.5:c.4453del (APC))

Individual ID 00000186
Chromosome 5
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.112840047del
Published as A1485fs
Reference Shafina-Nadiawati Abdul et al. (2017)
DB-ID APC_000023
dbSNP ID rs61750095
Frequency 1/9
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 2020-11-25 12:35:03 +08:00 (CST)
Date last edited 2021-09-08 14:51:48 +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 +/. 16 c.4453del A1485fs r.(?) p.(Ala1485Leufs*22) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000201 DNA PCR;SEQ;Western APC 5 Nuur Athirah Binti Mohd Daud