Genomic variant #0000044201

Individual ID 00022114
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.2136842C>T
Reference -
DB-ID TSC2_000329 See all 3 reported entries
dbSNP ID rs45517384
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.4959C>T r.(=) p.(=)
TSC2 NM_001077183.1 ./. - c.4758C>T r.(=) p.(=)
TSC2 NM_001114382.1 ./. - c.4890C>T r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000007612 DNA SEQ-NG-I 1 - 47 Stevi Xera