Variant #0000001235 (NC_000019.10:g.11123242A>G, NM_000527.4:c.2209A>G (LDLR))
Individual ID |
00000243 |
Chromosome |
19 |
Allele |
Both (homozygous) |
Affects function (as reported) |
Probably does not affect function |
Affects function (by curator) |
Not classified |
DNA change (genomic) (Relative to hg38 / GRCh38) |
g.11123242A>G |
Published as |
R716G |
Reference |
M Azian et al. (2006), dbSNP, ClinVar |
DB-ID |
LDLR_000058 |
dbSNP ID |
rs879255165 |
Frequency |
1/33 |
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 |
2020-12-13 11:49:58 +08:00 (CST) |
Date last edited |
2021-08-25 14:26:33 +08:00 (CST) |

Variant on transcripts
Screenings
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