Variant #0000001063 (NC_000019.10:g.11116882T>C, NM_000527.4:c.1729T>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.11116882T>C
Published as p.Trp576Arg in exon 12
Reference Kah Lin Khoo et al. (2016), dbSNP, ClinVar
DB-ID LDLR_000056
dbSNP ID rs879255000
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 10:29:22 +08:00 (CST)
Date last edited 2021-08-23 10:54:22 +08:00 (CST)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Published as     

RNA change     

Protein     

GVS function     

Clinical classification     
LDLR NM_000527.4 ./. 12 c.1729T>C - r.(?) p.(Trp577Arg) - ClinVar



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

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