View genomic variant #0000000595

Individual ID 00000603
Chromosome 1
Allele Unknown
Affects function (reported) Affects function
Affects function (concluded) Affects function
Type Substitution
DNA change (genomic) (Relative to hg19 / GRCh37) g.45368233C>T
Reference -
DB-ID chr1_000041
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     
SMAD2 NM_005901.5 +/+ 11 c.1369G>A r.(?) p.Gly457Arg



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000604 DNA SEQ SMAD2 1 Giada Tortora