Variant #0000454689 (NC_000018.9:g.48573605_48573613del, SMAD4(NM_005359.5):c.189_197del)

Individual ID 00218743
Chromosome 18
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
Classification method ACMG
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.48573605_48573613del
DNA change (hg38) g.51047235_51047243del
Published as 189_197delAAATGGAGC
ISCN -
DB-ID SMAD4_000141 See all 2 reported entries
Variant remarks ACMG PM2, PM4
Reference PubMed: Woodford-Richens 2000, Journal: Woodford-Richens et a 2000
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
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SMAD4 NM_005359.5 ?/? 2 c.189_197del r.(?) p.(Asn64_Ala66del)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000219814 DNA CSGE;SSCA;SEQ - screening SMAD4 1 Karl Heinimann