Genomic variant #0000029692

Individual ID 00020411
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.44228488C>T
Reference -
DB-ID EXT2_000004 See all 11 reported entries
dbSNP ID rs75987184
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 0.00191
Allele Count 11
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.1740C>T r.(=) p.(=)
EXT2 NM_001178083.1 -/- - c.1671C>T r.(=) p.(=)
EXT2 NM_207122.1 -/- - c.1641C>T r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001622 DNA SEQ-NG-I 1 - 11 Despoina Kalfakakou