Variant #0000000720 (NC_000005.10:g.112840073G>A, NM_000038.5:c.4479G>A (APC))

Individual ID 00000136
Chromosome 5
Allele Both (homozygous)
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.112840073G>A
Published as 112175770G > A
Reference Nurul-Syakima Ab Mutalib et al. (2014)dbSNP
DB-ID APC_000005 See all 2 reported entries
dbSNP ID rs41115
Frequency 3/9
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 2020-11-08 10:30:44 +08:00 (CST)
Date last edited 2021-08-22 16:02:23 +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.4479G>A 112175770G > A r.(=) p.(=) - ClinVar



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000151 DNA SEQ-NG;PCR APC 2 Nuur Athirah Binti Mohd Daud