Genomic variant #0000246347

Chromosome 5
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.82815368A>G
DNA change (hg38) -
Published as VCAN:c.1243A>G (I415V)
ISCN -
DB-ID VCAN_000011
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) 0.00123 View details
Owner VKGL-NL_AMC




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
VCAN NM_004385.4 -/. - c.1243A>G benign r.(?) p.(Ile415Val)