View genomic variant #0000000011

Individual ID 00000016
Chromosome 1
Allele Unknown
Affects function (reported) Affects function
Affects function (concluded) Affects function
Type Substitution
DNA change (genomic) (Relative to hg19 / GRCh37) g.218578555C>T
Reference -
DB-ID TGFB2_000001 See all 3 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     
TGFB2 NM_001135599.2 +/+ 3 c.475C>T r.(?) p.(Arg159*)



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000020 DNA SEQ TGFB2 1 Giada Tortora