Variant #0000000055 (NC_000014.8:g.68195928G>C, RDH12(NM_152443.2):c.679G>C)
Individual ID |
00000075 |
Chromosome |
14 |
Allele |
Both (homozygous) |
Affects function (as reported) |
Probably affects function |
Affects function (by curator) |
Probably affects function |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.68195928G>C |
Reference |
- |
DB-ID |
RDH12_000003 |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
variome.ir |
Database submission license |
Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International |
Created by |
variome.ir |
Variant on transcripts
Screenings
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