Variant #0000353041 (NC_000011.9:g.46893078G>T, NM_002334.3:c.4690C>A (LRP4))
Individual ID |
00152959 |
Chromosome |
11 |
Allele |
Maternal (confirmed) |
Affects function (as reported) |
Probably affects function |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
likely pathogenic |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.46893078G>T |
DNA change (hg38) |
g.46871527G>T |
Published as |
- |
ISCN |
- |
DB-ID |
LRP4_000030 |
Variant remarks |
- |
Reference |
- |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Rivka Sukenik Halevy |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
Johan den Dunnen |
Date created |
2018-02-09 17:17:19 +01:00 (CET) |
Date last edited |
N/A |

Variant on transcripts
Screenings
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