Genomic variant #0000026285

Individual ID 00020693
Chromosome 9
Allele Parent #2
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.135780978C>A
Reference -
DB-ID TSC1_000054
dbSNP ID rs886041538
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 0.00017
Allele Count 1
Allele Number 5752
Owner Despoina Kalfakakou
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
TSC1 NM_000368.4 +/+ - c.1987G>T r.(?) p.(Glu663*)
TSC1 NM_001162426.1 +/+ - c.1984G>T r.(?) p.(Glu662*)
TSC1 NM_001162427.1 +/+ - c.1834G>T r.(?) p.(Glu612*)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001323 DNA SEQ-NG-I 1 - 9 Despoina Kalfakakou