Variant #0000064348 (NC_000018.9:g.48593494_48593497del, NM_005359.5:c.1245_1248del (SMAD4))

Individual ID 00037153
Chromosome 18
Allele Parent #1
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 -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Andreas Laner
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Julia Lopez
Date created 2015-04-02 13:01:39 +02:00 (CEST)
Date last edited 2016-11-12 11:03:31 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SMAD4 NM_005359.5 +/. 10 c.1245_1248del r.(?) p.(Asp415Glufs*20)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000037223 DNA SEQ - - SMAD4 1 Andreas Laner


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