View genomic variant #0000000617

Individual ID 00000625
Chromosome 1
Allele Unknown
Affects function (reported) Affects function
Affects function (concluded) Not classified
Type Substitution
DNA change (genomic) (Relative to hg19 / GRCh37) g.218607538G>T
Reference -
DB-ID TGFB2_000023
Frequency -
Genetic origin Unknown
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     
TGFB2 NM_001135599.2 +/. 4 c.709G>T r.(?) p.(Glu237*) -



Screenings


AscendingScreening ID     

Template     

Technique     

Remarks     

Genes screened     

Variants found     

Owner     
0000000626 DNA SEQ-NG - SMAD2, SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2 1 Alessandra Maugeri