Variant #0000002739 (NC_000019.10:g.11116124C>T, NM_000527.4:c.1617C>T (LDLR))

Individual ID 00000620
Chromosome 19
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.11116124C>T
Published as -
Reference {DOI:Nor Idahriani Muhd Nor:10.35119/MYJO.V1I2.18}
DB-ID LDLR_000014 See all 3 reported entries
dbSNP ID rs5929
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 2021-05-09 15:30:11 +08:00 (CST)
Date last edited 2021-08-01 12:31:38 +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 +/. 11 c.1617C>T p.Pro539Pro r.(=) p.(=) - Benign



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000687 DNA DHPLC;PCR;SEQ LDLR 16 Nur Aisyah Athirah