Genomic variant #0000019593

Individual ID 00029150
Chromosome 5
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg19 / GRCh37) g.112111325G>A
Published as -
Reference Spirio et al. 1999
DB-ID APC_000330 See all 52 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 +/? 6i c.423-1G>A intron 3, -1 position, agGT --> aaGT r.spl p.? splicing affected 3i - substitution



Screenings


AscendingScreening ID     

Date     

Template     

Technique     

Tissue     

Method     

Genes screened     

Variants found     

Owner     
0000017973 - DNA SEQ ? test known APC variant (relative) APC 1 Stefan Aretz