Genomic variant #0000019550

Individual ID 00029107
Chromosome 5
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.112103006del
Published as -
Reference Fostira et al. 2010
DB-ID APC_000742
Frequency -
Variant remarks -
Genetic origin De novo
Segregation ?
Average frequency (large NGS studies) Variant not found in online data sets
Owner Stefan Aretz




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Published as     

RNA change     

Protein     

Consequence_Predicted     

Exon_old     

Splicing/transcript expression     

Variant_Type     
APC NM_000038.5 +/+ 6 c.341del 340delC r.(?) p.(Pro114Leufs*11) frameshift 3 - deletion, small



Screenings


AscendingScreening ID     

Date     

Template     

Technique     

Tissue     

Method     

Genes screened     

Variants found     

Owner     
0000017930 - DNA MLPA;SEQ ? screen APC gene (index patient) APC 1 Stefan Aretz