Variant #0000835780 (NC_000015.9:g.(?_28000021)_(28000619_28090104)del, NM_000275.2:c.(2432+1_2433-1)_*513{0} (OCA2))
Individual ID |
00400573 |
Chromosome |
15 |
Allele |
Parent #2 |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
pathogenic (recessive) |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.(?_28000021)_(28000619_28090104)del |
DNA change (hg38) |
g.(?_27754875)_(27755473_27844958)del |
Published as |
del ex24 |
ISCN |
- |
DB-ID |
OCA2_000098 See all 3 reported entries |
Variant remarks |
- |
Reference |
PubMed: Lasseaux 2018 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Johan den Dunnen |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
Johan den Dunnen |
Date created |
2022-01-26 15:06:00 +01:00 (CET) |
Date last edited |
N/A |

Variant on transcripts
Screenings
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