Variant #0000616011 (NC_000016.9:g.4852538C>G, NM_024589.1:c.35G>C (ROGDI))
Chromosome |
16 |
Allele |
Unknown |
Affects function (as reported) |
Effect unknown |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
VUS |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.4852538C>G |
DNA change (hg38) |
g.4802537C>G |
Published as |
ROGDI(NM_024589.2):c.35G>C (p.R12P) |
ISCN |
- |
DB-ID |
GLYR1_000013 |
Variant remarks |
VKGL data sharing initiative Nederland |
Reference |
- |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
CLASSIFICATION record |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
VKGL-NL_Rotterdam |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
VKGL-NL_Rotterdam |
Date created |
2019-12-04 15:24:38 +01:00 (CET) |
Date last edited |
2021-09-17 14:40:49 +02:00 (CEST) |

Variant on transcripts
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