Genomic variant #0000018720

Individual ID 00019952
Chromosome 11
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.44129781G>C
Reference -
DB-ID EXT2_000026 See all 15 reported entries
dbSNP ID rs148121594
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 0.00254
Allele Count 15
Allele Number 5900
Owner Despoina Kalfakakou
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
EXT2 NM_000401.3 -/- - c.618G>C r.(=) p.(=)
EXT2 NM_001178083.1 -/- - c.519G>C r.(=) p.(=)
EXT2 NM_207122.1 -/- - c.519G>C r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000599 DNA SEQ-NG-I 1 - 12 Despoina Kalfakakou