Genomic variant #0000027430

Individual ID 00020203
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.44146484C>T
Reference -
DB-ID EXT2_000031 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 0.00102
Allele Count 6
Allele Number 5900
Owner Despoina Kalfakakou
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
EXT2 NM_000401.3 -/- - c.988C>T r.(?) p.(Arg330Cys)
EXT2 NM_001178083.1 -/- - c.889C>T r.(?) p.(Arg297Cys)
EXT2 NM_207122.1 -/- - c.889C>T r.(?) p.(Arg297Cys)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001422 DNA SEQ-NG-I 1 - 8 Despoina Kalfakakou