Genomic variant #0000040289

Individual ID 00021504
Chromosome 9
Allele Parent #2
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg19 / GRCh37) g.135777044T>G
Reference -
DB-ID TSC1_000085
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 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.2434A>C r.(?) p.(Ile812Leu)
TSC1 NM_001162426.1 ?/? - c.2431A>C r.(?) p.(Ile811Leu)
TSC1 NM_001162427.1 ?/? - c.2281A>C r.(?) p.(Ile761Leu)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000007415 DNA SEQ-NG-I 1 - 12 Despoina Kalfakakou