Variant #0000877096 (NC_000010.10:g.95381740C>T, NM_006204.3:c.775C>T (PDE6C))
Individual ID |
00416137 |
Chromosome |
10 |
Allele |
Unknown |
Affects function (as reported) |
Probably affects function |
Affects function (by curator) |
Not classified |
Classification method |
ACMG |
Clinical classification |
likely pathogenic |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.95381740C>T |
DNA change (hg38) |
g.93621983C>T |
Published as |
PDE6C c.775C>T/p.R259* |
ISCN |
- |
DB-ID |
PDE6C_000026 See all 2 reported entries |
Variant remarks |
heterozygous |
Reference |
PubMed: Weisschuh 2018 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Unknown |
Segregation |
? |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
1.0E-5 View details |
Owner |
LOVD |
Database submission license |
Creative Commons Attribution 4.0 International |
Created by |
Anna Tracewska |
Date created |
2022-08-23 17:29:26 +02:00 (CEST) |
Date last edited |
2024-06-05 06:10:58 +02:00 (CEST) |

Variant on transcripts
Screenings
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