Variant #0000683267 (NC_000015.9:g.72103821A>C, NC_000015.9(NM_014249.3):c.119-2A>C (NR2E3))
Individual ID |
00307694 |
Chromosome |
15 |
Allele |
Unknown |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Not classified |
Classification method |
ACMG |
Clinical classification |
pathogenic |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.72103821A>C |
DNA change (hg38) |
- |
Published as |
- |
ISCN |
- |
DB-ID |
NR2E3_000001 See all 113 reported entries |
Variant remarks |
ACMG grading: PVS1,PS3,PS4,PM2,PM3,PP1 |
Reference |
- |
ClinVar ID |
- |
dbSNP ID |
rs2723341 |
Origin |
Germline |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
0.00051 View details |
Owner |
Andreas Laner |
Database submission license |
Creative Commons Attribution 4.0 International |
Created by |
Andreas Laner |
Date created |
2020-08-18 12:59:01 +02:00 (CEST) |
Date last edited |
2020-12-08 22:21:14 +01:00 (CET) |

Variant on transcripts
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