Variant #0000002579 (NC_000019.10:g.11105436C>T, NM_000527.4:c.530C>T (LDLR))

Individual ID 00000577
Chromosome 19
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.11105436C>T
Published as -
Reference Noor Shafina Mohd Nor et al.(2019)
DB-ID LDLR_000060
dbSNP ID rs121908026
Frequency -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Nur Aisyah Athirah
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Nur Aisyah Athirah
Date created 2021-04-08 11:25:20 +08:00 (CST)
Date last edited 2021-08-01 14:08:18 +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 +/. 4 c.530C>T - r.(?) p.(Ser177Leu) - Pathogenic/Likely pathogenic



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000635 DNA SEQ-NG-I LDLR 1 Nur Aisyah Athirah