Variant #0000454700 (NC_000018.9:g.48575670_48575671del, SMAD4(NM_005359.5):c.430_431del)

Individual ID 00218754
Chromosome 18
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Classification method ACMG
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.48575670_48575671del
DNA change (hg38) g.51049300_51049301del
Published as -
ISCN -
DB-ID SMAD4_000039 See all 5 reported entries
Variant remarks ACMG PVS1, PM2, PM4, PP3
Reference Journal: Pearlman 2016
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 Karl Heinimann
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SMAD4 NM_005359.5 +/+ 4 c.430_431del r.(?) p.(Ser144Argfs*7)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000219825 DNA SEQ-NG - screening SMAD4 1 Karl Heinimann