Variant #0000846467 (NC_000014.8:g.68195947T>A, NM_152443.2:c.698T>A (RDH12))
Individual ID |
00408066 |
Chromosome |
14 |
Allele |
Unknown |
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.68195947T>A |
DNA change (hg38) |
g.67729230T>A |
Published as |
RDH12 p.V233D |
ISCN |
- |
DB-ID |
RDH12_000071 See all 14 reported entries |
Variant remarks |
heterozygous |
Reference |
PubMed: Garg 2017 |
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 |
2022-04-13 13:03:39 +02:00 (CEST) |
Date last edited |
2025-03-09 11:16:19 +01:00 (CET) |

Variant on transcripts
Screenings
|
Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
|