Genomic variant #0000019544

Individual ID 00029101
Chromosome 5
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.112102931C>A
Published as -
Reference -
DB-ID APC_000741 See all 3 reported entries
Frequency -
Variant remarks -
Genetic origin Unknown
Segregation ?
Average frequency (large NGS studies) Variant not found in online data sets
Owner Elke Holinski-Feder




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.266C>A - r.(?) p.(Ser89*) nonsense 3 - substitution



Screenings


AscendingScreening ID     

Date     

Template     

Technique     

Tissue     

Method     

Genes screened     

Variants found     

Owner     
0000017924 - DNA SEQ ? screen APC gene (index patient) APC 1 Elke Holinski-Feder