Variant #0000788367 (NC_000005.9:g.82836597G>A, NM_004385.4:c.7775G>A (VCAN))

Individual ID 00375410
Chromosome 5
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.82836597G>A
DNA change (hg38) g.83540778G>A
Published as G7775A
ISCN -
DB-ID VCAN_000156
Variant remarks -
Reference PubMed: Katagiri 2014
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner LOVD
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2021-06-04 09:36:04 +02:00 (CEST)
Date last edited N/A
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
VCAN NM_004385.4 ?/. 8 c.7775G>A r.(?) p.(Gly2592Glu)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000376607 DNA SEQ-NG - WES - 10 LOVD


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