View genomic variant #0000000592

Individual ID 00000600
Chromosome 1
Allele Unknown
Affects function (reported) Affects function
Affects function (concluded) Affects function
Type Deletion
DNA change (genomic) (Relative to hg19 / GRCh37) g.76437977delA
Reference -
DB-ID chr1_000036 See all 2 reported entries
Frequency -
Genetic origin Unknown
Average frequency (large NGS studies) Variant not found in online data sets
Owner Giada Tortora




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Remarks     
TGFB3 NM_003239.3 +/+ 2 c.437delT r.(?) p.Leu146Hisfs*68 -



Screenings


AscendingScreening ID     

Template     

Technique     

Remarks     

Genes screened     

Variants found     

Owner     
0000000601 DNA SEQ - TGFB3 1 Giada Tortora