Variant #0000595993 (NC_000018.9:g.48573569del, SMAD4(NM_005359.5):c.153del)

Individual ID 00264258
Chromosome 18
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Classification method -
Clinical classification pathogenic (dominant)
DNA change (genomic) (Relative to hg19 / GRCh37) g.48573569del
DNA change (hg38) g.51047199del
Published as 153delA
ISCN -
DB-ID SMAD4_000205
Variant remarks -
Reference Journal: Stoffel 2018
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Benjamin Tschupp
Database submission license No license selected
Created by Benjamin Tschupp
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SMAD4 NM_005359.5 +/+ 2 c.153del r.(?) p.(Asp52Metfs*6)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000265378 DNA SEQ-NG - screening SMAD4 1 Benjamin Tschupp