Genomic variant #0000030705

Individual ID 00021546
Chromosome 11
Allele Parent #2
Affects function (as reported) Probably does not affect function
Affects function (by curator) Probably does not affect function
DNA change (genomic) (Relative to hg19 / GRCh37) g.44254000C>T
Reference -
DB-ID EXT2_000017 See all 4 reported entries
dbSNP ID rs138495222
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     
EXT2 NM_000401.3 -?/-? - c.1859C>T r.(?) p.(Thr620Met)
EXT2 NM_001178083.1 -?/-? - c.1790C>T r.(?) p.(Thr597Met)
EXT2 NM_207122.1 -?/-? - c.1760C>T r.(?) p.(Thr587Met)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001720 DNA SEQ-NG-I 1 - 13 Despoina Kalfakakou