Variant #0000001064 (NC_000019.10:g.11113332T>G, NM_000527.4:c.1241T>G (LDLR))

Individual ID 00000210
Chromosome 19
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.11113332T>G
Published as p.Leu414Arg in exon 9
Reference Kah Lin Khoo et al. (2016), dbSNP, ClinVar
DB-ID LDLR_000047 See all 2 reported entries
dbSNP ID rs748554592
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 InternationalCreative Commons License
Created by Nuur Athirah Binti Mohd Daud
Date created 2020-12-02 10:32:10 +08:00 (CST)
Date last edited 2021-08-23 10:52:13 +08:00 (CST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Published as     

RNA change     

Protein     

GVS function     

Clinical classification     
LDLR NM_000527.4 +/. 9 c.1241T>G - r.(?) p.(Leu414Arg) - ClinVar



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000225 DNA MLPA;SEQ LDLR 3 Nuur Athirah Binti Mohd Daud