Variant #0000064347 (NC_000018.9:g.48573689A>G, SMAD4(NM_005359.5):c.249+24A>G)

Individual ID 00037152
Chromosome 18
Allele Parent #1
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.48573689A>G
DNA change (hg38) g.51047319A>G
Published as -
ISCN -
DB-ID SMAD4_000010 See all 2 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID rs77389132
Origin Germline
Segregation -
Frequency up to 0.025
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.0076 View details
Owner Andreas Laner
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Julia Lopez
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SMAD4 NM_005359.5 -/. 2i c.249+24A>G r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000037222 DNA SEQ - - SMAD4 1 Andreas Laner