Variant #0000000926 (NC_000005.10:g.112838733G>T, APC(NM_000038.5):c.3139G>T)

Individual ID 00000187
Chromosome 5
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.112838733G>T
Published as E1057*
Reference Shafina-Nadiawati Abdul et al. (2017), dbSNP, ClinVar
DB-ID APC_000024
dbSNP ID rs568149455
Frequency 1/4
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
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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.3139G>T E1057* r.(?) p.(Glu1047*) - ClinVar



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000202 DNA PCR;SEQ;Western APC 3 Nuur Athirah Binti Mohd Daud