Variant #0000876982 (NC_000010.10:g.95380541G>C, NM_006204.3:c.633G>C (PDE6C))
Individual ID |
00416064 |
Chromosome |
10 |
Allele |
Parent #1 |
Affects function (as reported) |
Probably affects function |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
likely pathogenic |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.95380541G>C |
DNA change (hg38) |
g.93620784G>C |
Published as |
PDE6C c.633G>C, p.E211D |
ISCN |
- |
DB-ID |
PDE6C_000113 See all 2 reported entries |
Variant remarks |
heterozygous |
Reference |
PubMed: Thiadens 2009 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
yes |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
LOVD |
Database submission license |
Creative Commons Attribution 4.0 International |
Created by |
Anna Tracewska |
Date created |
2022-08-22 17:22:08 +02:00 (CEST) |
Date last edited |
2022-08-22 17:22:15 +02:00 (CEST) |

Variant on transcripts
Screenings
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