Variant #0000595990 (NC_000018.9:g.?, SMAD4(NM_005359.5):c.?)

Individual ID 00264255
Chromosome 18
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Classification method -
Clinical classification pathogenic (dominant)
DNA change (genomic) (Relative to hg19 / GRCh37) g.?
DNA change (hg38) -
Published as t(1;18)(p36.1;q21.1)
ISCN -
DB-ID SMCHD1_000000 See all 13 reported entries
Variant remarks -
Reference Journal: Brusgaard 2017
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Genomic location of variant could not be determined
Owner Benjamin Tschupp
Database submission license No license selected
Created by Benjamin Tschupp




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SMAD4 NM_005359.5 +/+ - c.? r.(?) p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000265375 DNA SEQ;SEQ-NG - screening SMAD4 1 Benjamin Tschupp