Genomic variant #0000041896

Individual ID 00022043
Chromosome 16
Allele Parent #2
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.2110795G>A
Reference -
DB-ID TSC2_000327 See all 3 reported entries
dbSNP ID rs1800725
Variant remarks -
Genetic origin -
Segregation -
Also Known As -
Is Greek Founder -
Geographic Origin (for founder variants) -
Average frequency (large NGS studies) Retrieve
Average frequency in greek population 0.00051
Allele Count 3
Allele Number 5900
Owner Stevi Xera
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
TSC2 NM_000548.3 ./. - c.1100G>A r.(?) p.(Arg367Gln)
TSC2 NM_001077183.1 ./. - c.1100G>A r.(?) p.(Arg367Gln)
TSC2 NM_001114382.1 ./. - c.1100G>A r.(?) p.(Arg367Gln)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000007540 DNA SEQ-NG-I 1 - 41 Stevi Xera