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 International |
Created by |
Johan den Dunnen |
Date created |
2021-06-04 09:36:04 +02:00 (CEST) |
Date last edited |
N/A |

Variant on transcripts
Screenings
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