Genomic variant #0000031175

Individual ID 00021577
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.135804266G>A
Reference -
DB-ID TSC1_000005 See all 26 reported entries
dbSNP ID rs62621221
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 0.00452
Allele Count 26
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.-7C>T r.(=) p.(=)
TSC1 NM_001162426.1 -/- - c.-7C>T r.(=) p.(=)
TSC1 NM_001162427.1 -/- - c.-7C>T r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001759 DNA SEQ-NG-I 1 - 11 Despoina Kalfakakou