Variant #0000454695 (NC_000018.9:g.48575069_48575073del, SMAD4(NM_005359.5):c.263_267del)

Individual ID 00218749
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.48575069_48575073del
DNA change (hg38) g.51048699_51048703del
Published as 263-267delAAGGA
ISCN -
DB-ID SMAD4_000142 See all 6 reported entries
Variant remarks ACMG PVS1, PM4, PM2, PP3
Reference Journal: Wain 2014
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 +/+ 3 c.263_267del r.(?) p.(Lys88Ilefs*14)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000219820 DNA SEQ - - SMAD4 1 Karl Heinimann