Variant #0000092013 (NC_000019.9:g.11200228G>A, LDLR(NM_000527.4):c.4G>A)

Individual ID 00061004
Chromosome 19
Allele Parent #1
Affects function (as reported) Probably does not affect function
Affects function (by curator) Probably does not affect function
Classification method ACGS
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.11200228G>A
DNA change (hg38) g.11089552G>A
Published as G-20R
ISCN -
DB-ID LDLR_001027
Variant remarks -
Reference PubMed: Fouchier 2005
ClinVar ID -
dbSNP ID rs5931
Origin Germline
Segregation -
Frequency not in ExAC, May 2015
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Sarah Leigh
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Predict/MutationTaster     

P-domain     

Predict/PolyPhen     

Predict/SIFT     

Conservation     

Predict/Splice     

Enzyme activity     
LDLR NM_000527.4 -?/-? 1 c.4G>A r.(?) p.(Gly2Arg) polymorphism signal peptide PPII HumDiv benign, 0; HumVar benign, 0 Tolerated; SIFT2 Not tolerated 0.113; (Rh) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000060993 DNA SEQ - - LDLR 1 Sarah Leigh