Variant #0000001058 (NC_000019.10:g.11107484G>A, NM_000527.4:c.910G>A (LDLR))

Individual ID 00000208
Chromosome 19
Allele Both (homozygous)
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.11107484G>A
Published as Asp304Asn in exon 6
Reference Kah Lin Khoo et al. (2016), dbSNP, (OMIM 0008), ClinVar
DB-ID LDLR_000006 See all 3 reported entries
dbSNP ID rs121908030
Frequency 1/10
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 2020-12-02 09:36:39 +08:00 (CST)
Date last edited 2021-08-23 10:45:04 +08:00 (CST)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Published as     

RNA change     

Protein     

GVS function     

Clinical classification     
LDLR NM_000527.4 ./. 6 c.910G>A - r.(?) p.(Asp304Asn) - ClinVar



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000223 DNA MLPA;SEQ LDLR 6 Nuur Athirah Binti Mohd Daud