Genomic variant #0000041283

Individual ID 00020892
Chromosome 9
Allele Parent #2
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.135776062G>A
Reference -
DB-ID TSC1_000086
dbSNP ID -
Variant remarks -
Genetic origin -
Segregation -
Also Known As -
Is Greek Founder -
Geographic Origin (for founder variants) -
Average frequency (large NGS studies) Retrieve
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.2625+40C>T r.(=) p.(=)
TSC1 NM_001162426.1 ./. - c.2622+40C>T r.(=) p.(=)
TSC1 NM_001162427.1 ./. - c.2472+40C>T r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000007522 DNA SEQ-NG-I 1 - 7 Despoina Kalfakakou