Genomic variant #0000039401

Individual ID 00021511
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.135797317C>G
Reference -
DB-ID TSC1_000082 See all 3 reported entries
dbSNP ID rs118203397
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 0.00051
Allele Count 3
Allele Number 5900
Owner Despoina Kalfakakou
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
TSC1 NM_000368.4 -/- - c.552G>C r.(=) p.(=)
TSC1 NM_001162426.1 -/- - c.552G>C r.(=) p.(=)
TSC1 NM_001162427.1 -/- - c.399G>C r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000006963 DNA SEQ-NG-I 1 - 15 Despoina Kalfakakou