Variant #0000002273 (NC_000005.10:g.112827199T>G, APC(NM_000038.5):c.1500T>G)

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.112827199T>G
Published as Y482X, Y500X
Reference dbSNP, (OMIM 0004), ClinVar
DB-ID APC_000030
dbSNP ID rs387906230
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
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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.1500T>G Y482X, Y500X r.(?) p.(Tyr500*) - Pathogenic



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000536 DNA SEQ APC 3 Nuur Athirah Binti Mohd Daud