Variant #0000408626 (NC_000018.9:g.48593494_48593497del, NM_005359.5:c.1245_1248del (SMAD4))

Individual ID 00183541
Chromosome 18
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.48593494_48593497del
DNA change (hg38) g.51067124_51067127del
Published as -
ISCN -
DB-ID SMAD4_000012 See all 95 reported entries
Variant remarks disruptive variant
Reference PubMed: Baert-Desurmont 2018
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Stephanie Baert-Desurmont
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by InSiGHT - John-Paul Plazzer
Date created 2018-04-21 06:42:58 +02:00 (CEST)
Date last edited 2018-09-11 11:52:42 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SMAD4 NM_005359.5 +/. - c.1245_1248del r.(?) p.Asp415Glufs*20



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000184509 DNA SEQ - CRC 10 gene panel SMAD4 1 Stephanie Baert-Desurmont


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