Genomic variant #0000021612

Individual ID 00019427
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.135781317G>C
Reference -
DB-ID TSC1_000007 See all 8 reported entries
dbSNP ID rs118203553
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.1648C>G r.(?) p.(Gln550Glu)
TSC1 NM_001162426.1 -?/-? - c.1645C>G r.(?) p.(Gln549Glu)
TSC1 NM_001162427.1 -?/-? - c.1495C>G r.(?) p.(Gln499Glu)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000841 DNA SEQ-NG-I 1 - 9 Despoina Kalfakakou