Genomic variant #0000132574

Individual ID 00081742
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.82832824A>G
DNA change (hg38) g.83537005A>G
Published as c.4004-2A>G
ISCN -
DB-ID VCAN_000003
Variant remarks not in 500 control chromosomes; mapped by linkage analysis
Reference PubMed: Miyamoto 2005, Journal: Miyamoto 2005, OMIM:var0001
ClinVar ID -
dbSNP ID rs80356555
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 +/. 7i c.4004-2A>G - r.4004_4042del p.Gly1335_Ile1347del



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000081872 DNA;RNA RT-PCR;SEQ - - VCAN 1 Johan den Dunnen