Variant #0000446122 (NC_000005.9:g.112073451G>A, APC(NM_000038.5):c.-190G>A)

Individual ID 00213111
Chromosome 5
Allele Paternal (confirmed)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.112073451G>A
DNA change (hg38) g.112737754G>A
Published as -
ISCN -
DB-ID APC_001802
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Emma Short
Database submission license No license selected
Created by Emma Short
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

Exon_old     

DNA change (cDNA)     

RNA change     

Protein     

Predicted     

Predict/PolyPhenScore     

Type/DNA     
APC NM_000038.5 +/. _1 - c.-190G>A r.(?) p.(=) - 0.000 substitution



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000214186 DNA SEQ - screen APC gene (index patient) APC 1 Emma Short