Genomic variant #0000012228

Individual ID 00021206
Chromosome X
Allele Parent #2
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg19 / GRCh37) g.132826572T>C
Reference -
DB-ID GPC3_000004 See all 4 reported entries
dbSNP ID -
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 0.0007
Allele Count 4
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.1236-50A>G r.(=) p.(=)
GPC3 NM_001164618.1 ?/? - c.1119-50A>G r.(=) p.(=)
GPC3 NM_001164619.1 ?/? - c.1005-50A>G r.(=) p.(=)
GPC3 NM_004484.3 ?/? - c.1167-50A>G r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000318 DNA SEQ-NG-I 1 - 14 Despoina Kalfakakou