Genomic variant #0000040103

Individual ID 00021989
Chromosome 16
Allele Parent #2
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.2138055_2138056insG
Reference -
DB-ID TSC2_000323
dbSNP ID -
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 Variant not found in online data sets
Allele Count 0
Allele Number 5752
Owner Despoina Kalfakakou
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
TSC2 NM_000548.3 +/+ - c.5075_5076insG r.(?) p.(Leu1694Profs*12)
TSC2 NM_001077183.1 +/+ - c.4874_4875insG r.(?) p.(Leu1627Profs*12)
TSC2 NM_001114382.1 +/+ - c.5006_5007insG r.(?) p.(Leu1671Profs*12)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000007002 DNA SEQ-NG - - 13 Despoina Kalfakakou