Variant #0000595933 (NC_000018.9:g.48573436C>T, SMAD4(NM_005359.5):c.20C>T)

Individual ID 00264198
Chromosome 18
Allele Parent #1
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.48573436C>T
DNA change (hg38) g.51047066C>T
Published as 20C>T / 1244_1247delACAG
ISCN -
DB-ID SMAD4_000204 See all 3 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 5.0E-5 View details
Owner Benjamin Tschupp
Database submission license No license selected
Created by Benjamin Tschupp
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SMAD4 NM_005359.5 ?/? 2 c.20C>T r.(?) p.(Thr7Met)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000265318 DNA SEQ - - SMAD4 2 Benjamin Tschupp