Genomic variant #0000019540

Individual ID 00029097
Chromosome 5
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg19 / GRCh37) g.112170779_112170782del
Published as -
Reference Copy of Watson submitted to LOVD shared database
DB-ID APC_000809 See all 6 reported entries
Frequency -
Variant remarks -
Genetic origin Germline (inherited)
Segregation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner LOVD_Shared




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 +?/? 17 c.1875_1878del - r.(?) p.(Asn627Leufs*2) - - - -



Screenings


AscendingScreening ID     

Date     

Template     

Technique     

Tissue     

Method     

Genes screened     

Variants found     

Owner     
0000017920 - DNA SEQ-NG-I - - APC 1 LOVD_Shared