Screening #0000081873

Individual ID 00081743
Template DNA;RNA
Technique RT-PCR;SEQ
Tissue -
Remarks -
Variants found? 2
Owner name Johan den Dunnen


Genes screened


AscendingSymbol     

Gene     

Chr     

Band

Transcripts     

Variants     

Unique variants     

Last updated     

Associated with diseases
VCAN versican 5 q12-q14 1 82 76 2016-10-21 WGVRP



Variants found

2 entries on 1 page. Showing entries 1 - 2.
Legend  

Chr     

Allele     

AscendingDNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     

Gene     

Effect     

Codon change     

IDbase Accession Number     

VariO/DNA     

VariO/Protein     

VariO/RNA     

Exon     

DNA change (cDNA)     

Haplotype     

ClassClinical     

RNA change     

Protein     

P-domain     

Exon_old     

DNA/Legacy     

Function/GVS     

Protein/Legacy     

CodonNr     

Method     

Predict/AGVGD     

Predict/Grantham     

Predict/MutationTaster     

Predict/PolyPhen     

Predict/PolyPhenScore     

Predict/SIFT     

Predicted     

Type/DNA     

Conservation     

CpG     

Enzyme activity     

mRNA level     

Predict/CADD     

Predict/Splice     

Protein/Stain     

Protein level     
5 Both (homozygous) g.82767201A>G g.83471382A>G - - VCAN_000005 - PubMed: Kloeckener-Gruissem 2006 - - Germline - - - 0 - Johan den Dunnen VCAN -?/. - - - - - _1 NM_004385.4:c.-648A>G - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - - - - -
5 Parent #1 g.82838088G>A g.83542269G>A - - VCAN_000004 not in 104 normal chromosomes; mapped by linkgae analysis; 700-fold and 150-fold increase in VCAN isoforms V2 and V3 PubMed: Kloeckener-Gruissem 2006, OMIM:var0002, PubMed: Kloeckener-Gruissem 2006 - - Germline yes - - 0 - Johan den Dunnen VCAN +/. - - - - - 8i NM_004385.4:c.9265+1G>A - - r.9245_9265del p.Thr3083_Gly3089del - - - - - - - - - - - - - - - - - - - - - - -
Legend