Genomic variant #0000311241

Chromosome 5
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.82837094G>C
DNA change (hg38) -
Published as VCAN(NM_004385.4):c.8272G>C (p.G2758R)
ISCN -
DB-ID VCAN_000047
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) Variant not found in online data sets
Owner VKGL-NL




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
VCAN NM_004385.4 ?/. - c.8272G>C VUS r.(?) p.(Gly2758Arg)