Variant #0000078790 (NC_000018.9:g.48575181_48575187dup, SMAD4(NM_005359.5):c.375_381dup)

Individual ID 00049956
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.48575181_48575187dup
DNA change (hg38) g.51048811_51048817dup
Published as 375_381dupTGTCTGT
ISCN -
DB-ID SMAD4_000037 See all 2 reported entries
Variant remarks ACMG PVS1, PM2, PM4, PP3
Reference PubMed: Handra-Luca 2005, Journal: Handra-Luca 2005
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 Global Variome, with Curator vacancy
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Julia Lopez
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SMAD4 NM_005359.5 +/+ 3 c.375_381dup r.(?) p.(Val128Cysfs*17)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000049876 DNA PCR;SEQ - screening SMAD4 1 Global Variome, with Curator vacancy