Variant #0000358535 (NC_000005.9:g.112111322del, APC(NM_000038.5):c.423-4del)

Individual ID 00155593
Chromosome 5
Allele Parent #1
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.112111322del
DNA change (hg38) g.112775625del
Published as 423-4delA
ISCN -
DB-ID APC_000744 See all 11 reported entries
Variant remarks -
Reference contributed by Dept. of Dr Vaccaro
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 Angela Solano & F Cardoso
Database submission license No license selected
Created by Johan den Dunnen
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 -?/. 5i - c.423-4del r.(?) p.(=) - - -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000156458 DNA SEQ - - - 9 Angela Solano & F Cardoso