View genomic variant #0000000597

Individual ID 00000605
Chromosome 1
Allele Unknown
Affects function (reported) Affects function
Affects function (concluded) Affects function
Type Substitution
DNA change (genomic) (Relative to hg19 / GRCh37) g.45371828T>C
Reference -
DB-ID chr1_000042 See all 2 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     
SMAD2 NM_005901.5 +/+ 10 c.1163A>G r.(?) p.Gln388Arg



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000606 DNA SEQ SMAD2 1 Giada Tortora