Variant #0000001065 (NC_000019.10:g.11123345G>T, NC_000019.10(NM_000527.4):c.2311+1G>T (LDLR))
Individual ID |
00000211 |
Chromosome |
19 |
Allele |
Both (homozygous) |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Not classified |
DNA change (genomic) (Relative to hg38 / GRCh38) |
g.11123345G>T |
Published as |
c.2311+1 G to T in intron 15 |
Reference |
Kah Lin Khoo et al. (2016), ClinVar |
DB-ID |
LDLR_000057 |
dbSNP ID |
- |
Frequency |
1/2 |
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 10:55:51 +08:00 (CST) |
Date last edited |
2020-12-14 17:14:48 +08:00 (CST) |

Variant on transcripts
Screenings
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