View genomic variant #0000000610

Individual ID 00000618
Chromosome 15
Allele Maternal (confirmed)
Affects function (reported) Affects function
Affects function (concluded) Not classified
Type Duplication
DNA change (genomic) (Relative to hg19 / GRCh37) g.67457417_67457420dup
Reference -
DB-ID SMAD3_000057
Frequency -
Genetic origin Germline (inherited)
Average frequency (large NGS studies) Variant not found in online data sets
Owner Alessandra Maugeri




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Remarks     
SMAD3 NM_005902.3 +/. 2 c.391_394dup r.(?) p.(Thr132Argfs*35) -



Screenings


AscendingScreening ID     

Template     

Technique     

Remarks     

Genes screened     

Variants found     

Owner     
0000000619 DNA SEQ-NG - SMAD2, SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2 1 Alessandra Maugeri