Genomic variant #0000526219

Chromosome 5
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.82818084C>T
DNA change (hg38) -
Published as VCAN(NM_004385.4):c.3959C>T (p.P1320L)
ISCN -
DB-ID VCAN_000103
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) 8.0E-5 View details
Owner VKGL-NL




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
VCAN NM_004385.4 ?/. - c.3959C>T VUS r.(?) p.(Pro1320Leu)