Variant #0000338292 (NC_000018.9:g.48575249C>A, SMAD4(NM_005359.5):c.424+19C>A)

Chromosome 18
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.48575249C>A
DNA change (hg38) g.51048879C>A
Published as -
ISCN -
DB-ID SMAD4_000116
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 1.0E-5 View details
Owner VKGL-NL_Nijmegen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Nijmegen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SMAD4 NM_005359.5 -/. - c.424+19C>A r.(=) p.(=)