Variant #0000001053 (NC_000019.10:g.11111585C>T, NM_000527.4:c.1132C>T (LDLR))

Individual ID 00000206
Chromosome 19
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.11111585C>T
Published as CAG>TAG at 1132
Reference K L Khoo et al. (2000), dbSNP, ClinVar
DB-ID LDLR_000046 See all 2 reported entries
dbSNP ID rs879254802
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 15:25:42 +08:00 (CST)
Date last edited 2021-08-23 10:35:23 +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 +/. 8 c.1132C>T - r.(?) p.(Gln378*) - ClinVar



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000221 DNA DGGE;PCR LDLR 1 Nuur Athirah Binti Mohd Daud