Variant #0000760591 (NC_000017.10:g.79620227G>A, NM_002602.3:c.109C>T (PDE6G))
Individual ID |
00359318 |
Chromosome |
17 |
Allele |
Parent #1 |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
pathogenic |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.79620227G>A |
DNA change (hg38) |
g.81653197G>A |
Published as |
- |
ISCN |
- |
DB-ID |
PDE6G_000010 See all 2 reported entries |
Variant remarks |
- |
Reference |
PubMed: Khan 2017 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
0 View details |
Owner |
LOVD |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
Johan den Dunnen |
Date created |
2021-03-19 13:20:32 +01:00 (CET) |
Date last edited |
N/A |

Variant on transcripts
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