Genomic variant #0000526225

Chromosome 5
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.82833426A>G
DNA change (hg38) -
Published as VCAN(NM_004385.4):c.4604A>G (p.E1535G)
ISCN -
DB-ID VCAN_000025 See all 2 reported entries
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (large NGS studies) 0.00415 View details
Owner VKGL-NL_Groningen




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
VCAN NM_004385.4 -?/. - c.4604A>G likely benign r.(?) p.(Glu1535Gly)