View genomic variant #0000000534

Individual ID 00000542
Chromosome 1
Allele Unknown
Affects function (reported) Affects function
Affects function (concluded) Affects function
Type Insertion
DNA change (genomic) (Relative to hg19 / GRCh37) g.218609346_218609361dup
Reference -
DB-ID chr1_000024
Frequency -
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 +/+ 6 c.873_888dup r.(?) p.Asn297*



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000543 DNA SEQ TGFB2 1 Giada Tortora