Genomic variant #0000268944

Chromosome 11
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.44146343C>T
DNA change (hg38) -
Published as EXT2:c.847C>T (R283W)
ISCN -
DB-ID EXT2_000398
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) 8.0E-5 View details
Owner VKGL-NL_VUmc




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
EXT2 NM_000401.3 ?/. - c.847C>T VUS r.(?) p.(Arg283Trp)
EXT2 NM_207122.1 ?/. - c.748C>T VUS r.(?) p.(Arg250Trp)