Genomic variant #0000019546

Individual ID 00029103
Chromosome 5
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg19 / GRCh37) g.112102960C>T
Published as -
Reference Dobbie et al. 1996
DB-ID APC_000420 See all 7 reported entries
Frequency -
Variant remarks -
Genetic origin Germline (inherited)
Segregation ?
Average frequency (large NGS studies) 0.00092 View details
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.295C>T codon 99, CGG --> TGG r.(?) p.(Arg99Trp) missense 3 - substitution



Screenings


AscendingScreening ID     

Date     

Template     

Technique     

Tissue     

Method     

Genes screened     

Variants found     

Owner     
0000017926 - DNA PTT;RT-PCR;SSCA;SEQ ? screen APC gene (index patient) APC 1 Stefan Aretz