Genomic variant #0000018892

Individual ID 00016876
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.44129522T>G
Reference -
DB-ID EXT2_000030 See all 3 reported entries
dbSNP ID rs140075817
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 0.00052
Allele Count 3
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.359T>G r.(?) p.(Met120Arg)
EXT2 NM_001178083.1 -/- - c.260T>G r.(?) p.(Met87Arg)
EXT2 NM_207122.1 -/- - c.260T>G r.(?) p.(Met87Arg)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000615 DNA SEQ-NG-I 1 - 11 Despoina Kalfakakou