Variant #0000001051 (NC_000019.10:g.11120490_11120496dup, NM_000527.4:c.2108_2114dup (LDLR))
Individual ID |
00000204 |
Chromosome |
19 |
Allele |
Unknown |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Not classified |
DNA change (genomic) (Relative to hg38 / GRCh38) |
g.11120490_11120496dup |
Published as |
TGCTGGCins2108 |
Reference |
K L Khoo et al. (2000), dbSNP, ClinVar |
DB-ID |
LDLR_000050 |
dbSNP ID |
rs879255141 |
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 |
2020-12-01 15:03:37 +08:00 (CST) |
Date last edited |
2021-09-05 09:44:24 +08:00 (CST) |

Variant on transcripts
Screenings
|
|