Genomic variant #0000031260

Individual ID 00021583
Chromosome 9
Allele Parent #2
Affects function (as reported) Probably does not affect function
Affects function (by curator) Probably does not affect function
DNA change (genomic) (Relative to hg19 / GRCh37) g.135772977G>A
Reference -
DB-ID TSC1_000001 See all 7 reported entries
dbSNP ID rs118203720
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 0.00121
Owner Despoina Kalfakakou
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
TSC1 NM_000368.4 -?/-? - c.2646C>T r.(=) p.(=)
TSC1 NM_001162426.1 -?/-? - c.2643C>T r.(=) p.(=)
TSC1 NM_001162427.1 -?/-? - c.2493C>T r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001766 DNA SEQ-NG-I 1 - 13 Despoina Kalfakakou