Variant #0000441653 (NC_000018.9:g.29121188G>A, NM_001943.3:c.1912G>A (DSG2))
Individual ID |
00209233 |
Chromosome |
18 |
Allele |
Unknown |
Affects function (as reported) |
Probably affects function |
Affects function (by curator) |
Effect unknown |
Classification method |
- |
Clinical classification |
likely pathogenic |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.29121188G>A |
DNA change (hg38) |
g.31541225G>A |
Published as |
- |
ISCN |
- |
DB-ID |
DSG2_000080 See all 6 reported entries |
Variant remarks |
- |
Reference |
PubMed: De Bortoli, ARVD/C database 7903 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
0.00012 View details |
Owner |
Paul van der Zwaag |
Database submission license |
No license selected |
Created by |
Paul van der Zwaag |
Date created |
2009-06-18 09:43:31 +02:00 (CEST) |
Date last edited |
2018-12-24 12:41:55 +01:00 (CET) |

Variant on transcripts
Screenings
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