Genomic variant #0000018134

Individual ID 00028509
Chromosome 5
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.112175218_112175222del
Published as -
Reference -
DB-ID APC_000006 See all 314 reported entries
Frequency -
Variant remarks identified as II hit in one polyp
Genetic origin Somatic
Segregation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Michele Ciavarella




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 +/. 15 c.3927_3931del c.3927_3931delAAAGA r.(?) p.(Glu1309Aspfs*4) - - - -



Screenings


AscendingScreening ID     

Date     

Template     

Technique     

Tissue     

Method     

Genes screened     

Variants found     

Owner     
0000017280 - DNA PCR - Sanger sequencing; dPCR APC 3 Michele Ciavarella