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

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
Options




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