Variant #0000454871 (NC_000018.9:g.?, SMAD4(NM_005359.5):c.?)

Individual ID 00218925
Chromosome 18
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
Classification method ACMG
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.?
DNA change (hg38) -
Published as IVS10+109A>G
ISCN -
DB-ID SMAD4_000000 See all 2 reported entries
Variant remarks ACMG PM2
Reference PubMed: Tram 2011, Journal: Tram 2011
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 Karl Heinimann
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen




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     
0000219996 DNA PCR;DHPLC;SEQ - screening SMAD4 1 Karl Heinimann