Genomic variant #0000031382

Individual ID 00011789
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.112111412_112111415del
DNA change (hg38) g.112775715_112775718del
Published as 505_508delATAG
ISCN -
DB-ID APC_000055 See all 22 reported entries
Variant remarks -
Reference PubMed: Miyaki et al. 1994; PubMed: Enomoto et al. 2000
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation ?
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 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 +/+ 7 4 c.509_512del r.(?) p.(Asp170Valfs*4) frameshift - deletion, small



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000011705 DNA SEQ ? screen APC gene (index patient) APC 1 Stefan Aretz