Variant #0000001062 (NC_000019.10:g.11113767G>C, NC_000019.10(NM_000527.4):c.1586+5G>C (LDLR))
Individual ID |
00000210 |
Chromosome |
19 |
Allele |
Both (homozygous) |
Affects function (as reported) |
Not classified |
Affects function (by curator) |
Not classified |
DNA change (genomic) (Relative to hg38 / GRCh38) |
g.11113767G>C |
Published as |
c.1586+5 G to C in intron 10 |
Reference |
Kah Lin Khoo et al. (2016), dbSNP, ClinVar |
DB-ID |
LDLR_000055 |
dbSNP ID |
rs781362878 |
Frequency |
1/5 |
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 10:17:26 +08:00 (CST) |
Date last edited |
2021-08-23 10:53:20 +08:00 (CST) |

Variant on transcripts
Screenings
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