Genomic variant #0000033254

Individual ID 00013661
Chromosome 5
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.112154723C>T
DNA change (hg38) g.112819026C>T
Published as -
ISCN -
DB-ID APC_000082 See all 56 reported entries
Variant remarks -
Reference PubMed: Friedl and Aretz 2005
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation ?
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Stefan Aretz




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

Exon_old     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Predicted     

Predict/PolyPhenScore     

Type/DNA     
APC NM_000038.5 +/+ 12 9 c.994C>T pathogenic r.(?) p.(Arg332*) nonsense - substitution



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000013577 DNA SEQ leukocytes screen APC gene (index patient) APC 2 Stefan Aretz