Variant #0000477503 (NC_000006.11:g.64791763C>T, NM_001142800.1:c.6557G>A (EYS))
Individual ID |
00233696 |
Chromosome |
6 |
Allele |
Both (homozygous) |
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.64791763C>T |
DNA change (hg38) |
g.64081870C>T |
Published as |
- |
ISCN |
- |
DB-ID |
EYS_000144 See all 51 reported entries |
Variant remarks |
- |
Reference |
PubMed: Koyanagi 2019, Journal: Koyanagi 2019 |
ClinVar ID |
- |
dbSNP ID |
rs527236068 |
Origin |
Germline |
Segregation |
- |
Frequency |
2/1198 cases with retinitis pigmentosa |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
3.0E-5 View details |
Owner |
Yoshito Koyanagi |
Database submission license |
No license selected |
Created by |
Yoshito Koyanagi |
Date created |
2019-05-03 15:11:26 +02:00 (CEST) |
Date last edited |
2025-03-10 08:18:23 +01:00 (CET) |

Variant on transcripts
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