Variant #0000001235 (NC_000019.10:g.11123242A>G, NM_000527.4:c.2209A>G (LDLR))

Individual ID 00000243
Chromosome 19
Allele Both (homozygous)
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.11123242A>G
Published as R716G
Reference M Azian et al. (2006), dbSNP, ClinVar
DB-ID LDLR_000058
dbSNP ID rs879255165
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 11:49:58 +08:00 (CST)
Date last edited 2021-08-25 14:26:33 +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 -?/. 15 c.2209A>G - r.(?) p.(Arg737Gly) - ClinVar



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

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