Variant #0000001060 (NC_000019.10:g.11128085G>A, NM_000527.4:c.2389G>A (LDLR))
Individual ID |
00000208 |
Chromosome |
19 |
Allele |
Unknown |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Not classified |
DNA change (genomic) (Relative to hg38 / GRCh38) |
g.11128085G>A |
Published as |
Val797Met in exon 16 |
Reference |
Kah Lin Khoo et al. (2016), ClinVar |
DB-ID |
LDLR_000054 |
dbSNP ID |
- |
Frequency |
1/10 |
Variant remarks |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Nuur Athirah Binti Mohd Daud |
Database submission license |
Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International |
Created by |
Nuur Athirah Binti Mohd Daud |
Date created |
2020-12-02 09:47:51 +08:00 (CST) |
Date last edited |
2020-12-14 17:12:45 +08:00 (CST) |

Variant on transcripts
Screenings
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