Genomic variant #0000250153

Chromosome 5
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.82815170A>G
DNA change (hg38) g.83519351A>G
Published as VCAN(NM_004385.4):c.1045A>G (p.K349E)
ISCN -
DB-ID VCAN_000010 See all 3 reported entries
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) 0.03062 View details
Owner VKGL-NL_VUmc
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
VCAN NM_004385.4 -/. - c.1045A>G r.(?) p.(Lys349Glu)