Genomic variant #0000043770

Individual ID 00022103
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.2106725C>G
Reference -
DB-ID TSC2_000043 See all 17 reported entries
dbSNP ID rs45473698
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 0.00288
Allele Count 17
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.729C>G r.(=) p.(=)
TSC2 NM_001077183.1 ./. - c.729C>G r.(=) p.(=)
TSC2 NM_001114382.1 ./. - c.729C>G r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000007601 DNA SEQ-NG-I 1 - 67 Stevi Xera