Variant #0000000923 (NC_000005.10:g.112839726C>T, NM_000038.5:c.4132C>T (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.112839726C>T
Published as Q1378*
Reference Shafina-Nadiawati Abdul et al. (2017), dbSNP, ClinVar
DB-ID APC_000022
dbSNP ID rs121913329
Frequency 2/9
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 12:05:22 +08:00 (CST)
Date last edited 2021-08-23 15:16:37 +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.4132C>T Q1378* r.(?) p.(Gln1378*) - ClinVar



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

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