Genomic variant #0000032065

Individual ID 00017811
Chromosome 11
Allele Parent #2
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg19 / GRCh37) g.44146315A>G
Reference -
DB-ID EXT2_000012 See all 6 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 0.00104
Allele Count 6
Allele Number 5752
Owner Despoina Kalfakakou
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
EXT2 NM_000401.3 ?/? - c.843-24A>G r.(=) p.(=)
EXT2 NM_001178083.1 ?/? - c.744-24A>G r.(=) p.(=)
EXT2 NM_207122.1 ?/? - c.744-24A>G r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001852 DNA SEQ-NG-I 1 - 10 Despoina Kalfakakou