Variant #0000062308 (NC_000003.11:g.8775526G>A, NM_033337.2:c.-37G>A (CAV3))
Individual ID |
00035119 |
Chromosome |
3 |
Allele |
Parent #1 |
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.8775526G>A |
DNA change (hg38) |
g.8733840G>A |
Published as |
- |
ISCN |
- |
DB-ID |
CAV3_000050 See all 5 reported entries |
Variant remarks |
- |
Reference |
- |
ClinVar ID |
- |
dbSNP ID |
rs116840771 |
Origin |
Germline |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
0.00283 View details |
Owner |
Andreas Laner |
Database submission license |
Creative Commons Attribution 4.0 International |
Created by |
Julia Lopez |
Date created |
2015-04-02 13:01:39 +02:00 (CEST) |
Date last edited |
2016-06-24 19:53:43 +02:00 (CEST) |

Variant on transcripts
Screenings
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