Variant #0000439056 (NC_000018.9:g.48575659A>G, SMAD4(NM_005359.5):c.425-6A>G)

Individual ID 00207947
Chromosome 18
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.48575659A>G
DNA change (hg38) g.51049289A>G
Published as -
ISCN -
DB-ID SMAD4_000128
Variant remarks ACMG grading: PM2,PP3 (Aretz 2007. J Med Genet 44: 702); CRC at age 42y, clinical poyposis, IHC: all 4 MMR genes axpressed, MSS
Reference -
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 Andreas Laner
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Andreas Laner
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SMAD4 NM_005359.5 ?/. - c.425-6A>G r.spl? p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000208992 DNA SEQ-NG - - - 2 Andreas Laner