Genomic variant #0000004767

Individual ID 00003668
Chromosome 5
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.112163697dupA
Published as -
Reference -
DB-ID APC_000448 See all 8 reported entries
Frequency -
Variant remarks -
Genetic origin Germline (inherited)
Segregation yes
Average frequency (large NGS studies) Variant not found in online data sets
Owner Rajiv Sarin




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 +/. 12 c.1620dup c.1620dupA r.(?) p.(Gln541Thrfs*19) - - - -



Screenings


AscendingScreening ID     

Date     

Template     

Technique     

Tissue     

Method     

Genes screened     

Variants found     

Owner     
0000004015 - DNA PCR;SEQ - - APC 1 Rajiv Sarin