Variant #0000021761 (NC_000018.9:g.48575186G>T, SMAD4(NM_005359.5):c.380G>T)

Individual ID 00003295
Chromosome 18
Allele Parent #1
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.48575186G>T
DNA change (hg38) g.51048816G>T
Published as -
ISCN -
DB-ID SMAD4_000009 See all 2 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) Variant not found in online data sets
Owner Christopher Watson
Database submission license No license selected
Created by Christopher Watson
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SMAD4 NM_005359.5 ?/. 4 c.380G>T r.(?) p.(Cys127Phe)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000003213 DNA SEQ-NG-I - - SMAD4 1 Christopher Watson