Variant #0000033875 (NC_000005.9:g.(?_112073556)_(112116601_112128142)del, APC(NM_000038.5):c.(?_-85)_(645+1_646-1)del)

Individual ID 00014282
Chromosome 5
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.(?_112073556)_(112116601_112128142)del
DNA change (hg38) -
Published as -85-?_645+?del
ISCN -
DB-ID APC_000527 See all 4 reported entries
Variant remarks -
Reference PubMed: Nielsen et al. 2007a; PubMed: Nielsen et al. 2007b
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 Stefan Aretz
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 +/+ P_1_8i 1_5+promotor c.(?_-85)_(645+1_646-1)del r.0 p.0 deletion, large - deletion, large



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000014198 DNA MLPA;SEQ leukocytes screen APC gene (index patient) APC 1 Stefan Aretz