Variant #0000001056 (NC_000019.10:g.11106633T>A, NM_000527.4:c.763T>A (LDLR))

Individual ID 00000208
Chromosome 19
Allele Both (homozygous)
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.11106633T>A
Published as Cys255Ser in exon 5
Reference Kah Lin Khoo et al. (2016), dbSNP, ClinVar
DB-ID LDLR_000027 See all 6 reported entries
dbSNP ID rs879254668
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 InternationalCreative Commons License
Created by Nuur Athirah Binti Mohd Daud
Date created 2020-12-02 09:22:08 +08:00 (CST)
Date last edited 2021-08-23 10:43:37 +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 +?/. 5 c.763T>A - r.(?) p.(Cys255Ser) - ClinVar



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000223 DNA MLPA;SEQ LDLR 6 Nuur Athirah Binti Mohd Daud