Variant #0000001231 (NC_000019.10:g.11102741G>A, NM_000527.4:c.268G>A (LDLR))

Individual ID 00000243
Chromosome 19
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.11102741G>A
Published as D69N
Reference M Azian et ai. (2006), dbSNP, ClinVar
DB-ID LDLR_000039 See all 2 reported entries
dbSNP ID rs749038326
Frequency 1/33
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 2020-12-13 11:30:47 +08:00 (CST)
Date last edited 2021-08-25 09:46:38 +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 +/. 3 c.268G>A - r.(?) p.(Asp90Asn) - ClinVar



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000258 DNA DGGE;PCR LDLR 9 Nuur Athirah Binti Mohd Daud