Variant #0000078806 (NC_000018.9:g.48575659A>G, SMAD4(NM_005359.5):c.425-6A>G)

Individual ID 00049972
Chromosome 18
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.48575659A>G
DNA change (hg38) g.51049289A>G
Published as -
ISCN -
DB-ID SMAD4_000131
Variant remarks -
Reference PubMed: Aretz 2007
ClinVar ID -
dbSNP ID rs377767327
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 +/+ 3i c.425-6A>G r.spl? p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000049892 DNA SEQ - - SMAD4 1 Global Variome, with Curator vacancy