View genomic variant #0000000543

Individual ID 00000551
Chromosome 1
Allele Unknown
Affects function (reported) Affects function
Affects function (concluded) Affects function
Type Substitution
DNA change (genomic) (Relative to hg19 / GRCh37) g.76431929A>G
Reference -
DB-ID chr1_000025 See all 10 reported entries
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     
TGFB3 NM_003239.3 +/+ 4 c.754+2T>C r.(?) p.Glu216_Lys251del



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000552 DNA SEQ TGFB3 1 Giada Tortora