Variant #0000078818 (NC_000018.9:g.48575108G>A, SMAD4(NM_005359.5):c.302G>A)

Individual ID 00049984
Chromosome 18
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Effect unknown
Classification method ACMG
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.48575108G>A
DNA change (hg38) g.51048738G>A
Published as 302G>A | W101X
ISCN -
DB-ID SMAD4_000077
Variant remarks ACMG PM2, PM4, PP3
Reference PubMed: Gallione 2010, Journal: Gallione 2010
ClinVar ID -
dbSNP ID rs377767323
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
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SMAD4 NM_005359.5 +/? 3 c.302G>A r.(?) p.(Trp101*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000049904 DNA PCR;SEQ - screening SMAD4 1 Global Variome, with Curator vacancy