Genomic variant #0000024259

Individual ID 00017443
Chromosome X
Allele Parent #2
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.132826549A>G
Reference -
DB-ID GPC3_000002 See all 15 reported entries
dbSNP ID -
Variant remarks -
Genetic origin -
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 0.00277
Owner Despoina Kalfakakou
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
GPC3 NM_001164617.1 ./. - c.1236-27T>C r.(=) p.(=)
GPC3 NM_001164618.1 ./. - c.1119-27T>C r.(=) p.(=)
GPC3 NM_001164619.1 ./. - c.1005-27T>C r.(=) p.(=)
GPC3 NM_004484.3 ./. - c.1167-27T>C r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001110 DNA SEQ-NG-I 1 - 13 Despoina Kalfakakou