Variant #0000367748 (NC_000011.9:g.47469717G>A, NC_000011.9(NM_005055.4):c.193-15C>T (RAPSN))
Individual ID |
00163650 |
Chromosome |
11 |
Allele |
Unknown |
Affects function (as reported) |
Does not affect function |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
benign |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.47469717G>A |
DNA change (hg38) |
g.47448165G>A |
Published as |
- |
ISCN |
- |
DB-ID |
RAPSN_000029 See all 16 reported entries |
Variant remarks |
- |
Reference |
- |
ClinVar ID |
259627 |
dbSNP ID |
rs45547231 |
Origin |
Unknown |
Segregation |
? |
Frequency |
0.15 controls |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
0.10665 View details |
Owner |
Florian Erger |
Database submission license |
No license selected |
Created by |
Florian Erger |
Date created |
2018-04-03 17:36:29 +02:00 (CEST) |
Date last edited |
2019-01-12 17:43:38 +01:00 (CET) |

Variant on transcripts
Screenings
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