Genomic variant #0000025621

Individual ID 00019573
Chromosome X
Allele Both (homozygous)
Affects function (as reported) Does not affect function
Affects function (by curator) Does not affect function
DNA change (genomic) (Relative to hg19 / GRCh37) g.132826530A>G
Reference -
DB-ID GPC3_000003 See all 7 reported entries
dbSNP ID rs182950534
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 0.00156
Allele Count 9
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.1236-8T>C r.(=) p.(=)
GPC3 NM_001164618.1 -/- - c.1119-8T>C r.(=) p.(=)
GPC3 NM_001164619.1 -/- - c.1005-8T>C r.(=) p.(=)
GPC3 NM_004484.3 -/- - c.1167-8T>C r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001264 DNA SEQ-NG-I 1 - 8 Despoina Kalfakakou