Genomic variant #0000319522

Chromosome 5
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.82808027C>T
DNA change (hg38) g.83512208C>T
Published as VCAN(NM_004385.4):c.854C>T (p.A285V)
ISCN -
DB-ID VCAN_000068
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.00054 View details
Owner VKGL-NL_Rotterdam
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
VCAN NM_004385.4 ?/. - c.854C>T r.(?) p.(Ala285Val)