Genomic variant #0000018474

Individual ID 00016848
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.135771984G>C
Reference -
DB-ID TSC1_000027 See all 2 reported entries
dbSNP ID rs747162992
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 0.00035
Allele Count 2
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.3133C>G r.(?) p.(Leu1045Val)
TSC1 NM_001162426.1 ?/? - c.3130C>G r.(?) p.(Leu1044Val)
TSC1 NM_001162427.1 ?/? - c.2980C>G r.(?) p.(Leu994Val)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000577 DNA SEQ-NG-I 1 - 10 Despoina Kalfakakou