Variant #0000877047 (NC_000010.10:g.95380377T>A, NC_000010.10(NM_006204.3):c.481-12T>A (PDE6C))
Individual ID |
00416109 |
Chromosome |
10 |
Allele |
Maternal (confirmed) |
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.95380377T>A |
DNA change (hg38) |
g.93620620T>A |
Published as |
PDE6C c.481-12T>A |
ISCN |
- |
DB-ID |
PDE6C_000111 See all 2 reported entries |
Variant remarks |
heterozygous |
Reference |
PubMed: Chang 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 20:42:34 +02:00 (CEST) |
Date last edited |
N/A |

Variant on transcripts
Screenings
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