Genomic variant #0000019612

Individual ID 00029169
Chromosome 5
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.112111372dup
Published as -
Reference Walon et al. 1997
DB-ID APC_000746 See all 8 reported entries
Frequency -
Variant remarks -
Genetic origin Germline (inherited)
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 +/+ 7 c.469dup 487insT r.(?) p.(Trp157Leufs*11) frameshift 4 - duplication, small



Screenings


AscendingScreening ID     

Date     

Template     

Technique     

Tissue     

Method     

Genes screened     

Variants found     

Owner     
0000017992 - DNA RT-PCR;PTT;SSCA;SEQ ? test known APC variant (relative) APC 1 Stefan Aretz