Variant #0000454699 (NC_000018.9:g.48575235G>A, SMAD4(NM_005359.5):c.424+5G>A)

Individual ID 00218753
Chromosome 18
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Effect unknown
Classification method ACMG
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.48575235G>A
DNA change (hg38) g.51048865G>A
Published as -
ISCN -
DB-ID SMAD4_000127 See all 5 reported entries
Variant remarks ACMG PP3, BP6
Reference Journal: Jelsig 2016
ClinVar ID -
dbSNP ID rs200772603
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00021 View details
Owner Karl Heinimann
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SMAD4 NM_005359.5 -/? 3i c.424+5G>A r.spl? p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000219824 DNA SEQ-NG-I - screening SMAD4 1 Karl Heinimann