Variant #0000446305 (NC_000011.9:g.47460306A>G, NM_005055.4:c.1143T>C (RAPSN))
Individual ID |
00213227 |
Chromosome |
11 |
Allele |
Paternal (confirmed) |
Affects function (as reported) |
Does not affect function |
Affects function (by curator) |
Does not affect function |
Classification method |
- |
Clinical classification |
benign |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.47460306A>G |
DNA change (hg38) |
g.47438755A>G |
Published as |
- |
ISCN |
- |
DB-ID |
RAPSN_000007 See all 45 reported entries |
Variant remarks |
- |
Reference |
PubMed: Ohno 2003 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
0.66407 View details |
Owner |
Johan den Dunnen |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
Johan den Dunnen |
Date created |
2011-11-05 12:10:30 +01:00 (CET) |
Date last edited |
2019-01-12 17:43:38 +01:00 (CET) |

Variant on transcripts
Screenings
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