Variant #0000809284 (NC_000020.10:g.5294959del, NM_144773.2:c.58del (PROKR2))
Chromosome |
20 |
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.5294959del |
DNA change (hg38) |
- |
Published as |
PROKR2(NM_144773.3):c.58delC (p.H20Mfs*24), PROKR2(NM_144773.4):c.58del (p.(His20MetfsTer24)) |
ISCN |
- |
DB-ID |
PROKR2_000013 See all 3 reported entries |
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 |
2021-09-17 14:40:49 +02:00 (CEST) |
Date last edited |
2024-04-19 20:27:30 +02:00 (CEST) |

Variant on transcripts
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