Genomic variant #0000018282

Individual ID 00019916
Chromosome 11
Allele Parent #2
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.44255779A>C
Reference -
DB-ID EXT2_000025 See all 2 reported entries
dbSNP ID -
Variant remarks -
Genetic origin -
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 0.00048
Owner Despoina Kalfakakou
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
EXT2 NM_000401.3 ./. - c.2020A>C r.(?) p.(Lys674Gln)
EXT2 NM_001178083.1 ./. - c.1951A>C r.(?) p.(Lys651Gln)
EXT2 NM_207122.1 ./. - c.1921A>C r.(?) p.(Lys641Gln)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000561 DNA SEQ-NG-I 1 - 11 Despoina Kalfakakou