Genomic variant #0000276451

Chromosome 11
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.44129643del
DNA change (hg38) -
Published as EXT2:c.480delT (R161Gfs*142)
ISCN -
DB-ID EXT2_000393
Variant remarks VKGL data sharing initiative Nederland; correct HGVS to be checked
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner VKGL-NL_Rotterdam




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
EXT2 NM_000401.3 +/. - c.480del pathogenic r.(?) p.(Arg161Glyfs*142)
EXT2 NM_207122.1 +/. - c.381del pathogenic r.(?) p.(Arg128Glyfs*142)