Variant #0000454904 (NC_000018.9:g.(?_48540028)_(48611412 _?)del, SMAD4(NM_005359.5):c.(?_-17093)_(*6575_?)del)

Individual ID 00218947
Chromosome 18
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic (dominant)
DNA change (genomic) (Relative to hg19 / GRCh37) g.(?_48540028)_(48611412 _?)del
DNA change (hg38) -
Published as ‐17093‐?_1659+?del
ISCN -
DB-ID SMAD4_000133 See all 4 reported entries
Variant remarks -
Reference PubMed: Aretz 2007
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Genomic location of variant could not be determined
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SMAD4 NM_005359.5 +/. _1_13_ c.(?_-17093)_(*6575_?)del r.0 p.0



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000220019 DNA SEQ;MLPA - target gene panel (SMAD4, BMPR1A, PTEN, CDH1) SMAD4 1 Johan den Dunnen