Genomic variant #0000002018

Individual ID 00016261
Chromosome X
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.132670325_132670328del
Reference -
DB-ID GPC3_000001 See all 12 reported entries
dbSNP ID rs751413609
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 0.00226
Allele Count 13
Allele Number 5752
Owner Despoina Kalfakakou
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
GPC3 NM_001164617.1 -/- - c.1643-7_1643-4del r.spl? p.?
GPC3 NM_001164618.1 -/- - c.1526-7_1526-4del r.spl? p.?
GPC3 NM_001164619.1 -/- - c.1412-7_1412-4del r.spl? p.?
GPC3 NM_004484.3 -/- - c.1574-7_1574-4del r.spl? p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000048 DNA SEQ-NG-I 1 - 15 Despoina Kalfakakou