Variant #0000001054 (NC_000019.10:g.11113375C>G, NM_000527.4:c.1284C>G (LDLR))

Individual ID 00000207
Chromosome 19
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.11113375C>G
Published as AAC>AAG at 1283
Reference K L Khoo et al. (2000), dbSNP, ClinVar
DB-ID LDLR_000051
dbSNP ID rs368708058
Frequency 1
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 2020-12-01 15:32:36 +08:00 (CST)
Date last edited 2021-08-23 10:36:45 +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.1284C>G - r.(?) p.(Asn428Lys) - ClinVar



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000222 DNA DGGE;PCR LDLR 1 Nuur Athirah Binti Mohd Daud