Variant #0000174651 (NC_000003.11:g.8775661C>T, NM_033337.2:c.99C>T (CAV3))
Individual ID |
00108209 |
Chromosome |
3 |
Allele |
Parent #1 |
Affects function (as reported) |
Does not affect function |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
benign |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.8775661C>T |
DNA change (hg38) |
g.8733975C>T |
Published as |
- |
ISCN |
- |
DB-ID |
CAV3_000016 See all 15 reported entries |
Variant remarks |
- |
Reference |
PubMed: Koopmann 2007 |
ClinVar ID |
- |
dbSNP ID |
rs1008642 |
Origin |
Germline |
Segregation |
- |
Frequency |
- |
Re-site |
16/78 |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
0.29311 View details |
Owner |
Johan den Dunnen |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
Johan den Dunnen |
Date created |
2011-01-25 23:18:14 +01:00 (CET) |
Date last edited |
2012-11-02 20:40:42 +01:00 (CET) |

Variant on transcripts
Screenings
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