Variant #0000002298 (NC_000019.10:g.11120514G>A, NM_000527.4:c.2132G>A (LDLR))

Individual ID 00000506
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.11120514G>A
Published as -
Reference J K Chahil et al.(2012)
DB-ID LDLR_000052 See all 4 reported entries
dbSNP ID rs879255145
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 2021-03-11 15:23:17 +08:00 (CST)
Date last edited 2021-08-01 13:22:26 +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 +?/. 14 c.2132G>A - r.(?) p.(Cys711Tyr) - Likely pathogenic



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000553 DNA PCR;SEQ LDLR 1 Nur Aisyah Athirah