Variant #0000001049 (NC_000019.10:g.11113608G>A, LDLR(NM_000527.4):c.1432G>A)

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.11113608G>A
Published as GGG>AGG at 1432
Reference K L Khoo et al. (2000), ClinVar
DB-ID LDLR_000048
dbSNP ID -
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
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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 +/. 10 c.1432G>A - r.(?) p.(Gly478Arg) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000219 DNA DGGE;PCR LDLR 8 Nuur Athirah Binti Mohd Daud