Variant #0000593696 (NC_000018.9:g.48573569dup, SMAD4(NM_005359.5):c.153dup)

Individual ID 00262110
Chromosome 18
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.48573569dup
DNA change (hg38) g.51047199dup
Published as -
ISCN -
DB-ID SMAD4_000200
Variant remarks ACMG grading: PVS1,PM2
Reference -
ClinVar ID -
dbSNP ID rs786203560
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Andreas Laner
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Andreas Laner
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SMAD4 NM_005359.5 +?/. - c.153dup r.(?) p.Asp52Argfs*2



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000263216 DNA SEQ-NG-S - - - 1 Andreas Laner