Variant #0000095185 (NC_000006.11:g.118880110G>A, PLN(NM_002667.3):c.26G>A)
Individual ID |
00064067 |
Chromosome |
6 |
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.118880110G>A |
DNA change (hg38) |
g.118558947G>A |
Published as |
NM_002667:c.G26A |
ISCN |
- |
DB-ID |
PLN_000021 See all 3 reported entries |
Variant remarks |
- |
Reference |
PubMed: Lopes 2013, Journal: Lopes 2013 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
Frequency |
1/223 cases HCM |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
1.0E-5 View details |
Owner |
Johan den Dunnen |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
Johan den Dunnen |
Date created |
2016-04-27 08:53:12 +02:00 (CEST) |
Date last edited |
N/A |

Variant on transcripts
Screenings
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