Genomic variant #0000027645

Individual ID 00020209
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.135772175G>T
Reference -
DB-ID TSC1_000013 See all 8 reported entries
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 0.00139
Allele Count 8
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.2976-34C>A r.(=) p.(=)
TSC1 NM_001162426.1 ?/? - c.2973-34C>A r.(=) p.(=)
TSC1 NM_001162427.1 ?/? - c.2823-34C>A r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001439 DNA SEQ-NG-I 1 - 14 Despoina Kalfakakou