Genomic variant #0000006042

Individual ID 00016443
Chromosome 16
Allele Parent #2
Affects function (as reported) Does not affect function
Affects function (by curator) Does not affect function
DNA change (genomic) (Relative to hg19 / GRCh37) g.2103389C>T
Reference -
DB-ID TSC2_000040 See all 5 reported entries
dbSNP ID rs45482691
Variant remarks -
Genetic origin Germline
Segregation -
Also Known As -
Is Greek Founder -
Geographic Origin (for founder variants) -
Average frequency (large NGS studies) Variant not found in online data sets
Average frequency in greek population 0.0012
Owner Despoina Kalfakakou
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
TSC2 NM_000548.3 -/- - c.272C>T r.(?) p.(Pro91Leu)
TSC2 NM_001077183.1 -/- - c.272C>T r.(?) p.(Pro91Leu)
TSC2 NM_001114382.1 -/- - c.272C>T r.(?) p.(Pro91Leu)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000167 DNA SEQ-NG-I 1 - 14 Despoina Kalfakakou