Variant #0000000964 (NC_000019.10:g.11110778C>A, NC_000019.10(NM_000527.4):c.1060+7C>A (LDLR))
Individual ID |
00000195 |
Chromosome |
19 |
Allele |
Unknown |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Not classified |
DNA change (genomic) (Relative to hg38 / GRCh38) |
g.11110778C>A |
Published as |
c.1060+7T>C |
Reference |
Alyaa Al-Khateeb et al. (2011), dbSNP |
DB-ID |
LDLR_000008 |
dbSNP ID |
rs2738442 |
Frequency |
18/147 |
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 |
2020-11-29 10:05:30 +08:00 (CST) |
Date last edited |
2021-08-24 15:16:05 +08:00 (CST) |

Variant on transcripts
Screenings
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