Genomic variant #0000017763

Individual ID 00019856
Chromosome 9
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.135782766A>G
Reference -
DB-ID TSC1_000023
dbSNP ID rs1399728684
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.1264-9T>C r.(=) p.(=)
TSC1 NM_001162426.1 -/- - c.1261-9T>C r.(=) p.(=)
TSC1 NM_001162427.1 -/- - c.1111-9T>C r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000515 DNA SEQ-NG-I 1 - 17 Despoina Kalfakakou