View genomic variant #0000000478

Individual ID 00000486
Chromosome 1
Allele Unknown
Affects function (reported) Affects function
Affects function (concluded) Affects function
Type Insertion
DNA change (genomic) (Relative to hg19 / GRCh37) g.218578598_218578599insT
Reference -
DB-ID TGFB2_000003
Frequency giada.tortora
Genetic origin Unknown
Average frequency (large NGS studies) Retrieve
Owner Giada Tortora




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
TGFB2 NM_001135599.2 +/+ 3 c.518_519insT r.(?) p.(Lys174Glufs*18)



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000487 DNA SEQ TGFB2 1 Giada Tortora