Genomic variant #0000132575

Individual ID 00081743
Chromosome 5
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.82838088G>A
DNA change (hg38) g.83542269G>A
Published as -
ISCN -
DB-ID VCAN_000004
Variant remarks not in 104 normal chromosomes; mapped by linkgae analysis; 700-fold and 150-fold increase in VCAN isoforms V2 and V3
Reference PubMed: Kloeckener-Gruissem 2006, OMIM:var0002, PubMed: Kloeckener-Gruissem 2006
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Johan den Dunnen




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
VCAN NM_004385.4 +/. 8i c.9265+1G>A - r.9245_9265del p.Thr3083_Gly3089del



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000081873 DNA;RNA RT-PCR;SEQ - - VCAN 2 Johan den Dunnen