Genomic variant #0000018140

Individual ID 00028514
Chromosome 5
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.112128191C>T
Published as -
Reference -
DB-ID APC_000070 See all 69 reported entries
Frequency -
Variant remarks identified 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 +/. 6 c.694C>T - r.(?) p.(Arg232*) - - - -



Screenings


AscendingScreening ID     

Date     

Template     

Technique     

Tissue     

Method     

Genes screened     

Variants found     

Owner     
0000017284 - DNA SEQ-NG - NGS; sanger sequencing APC 1 Michele Ciavarella