Variant #0000092005 (NC_000019.9:g.11200225A>C, LDLR(NM_000527.4):c.1A>C)

Individual ID 00060996
Chromosome 19
Allele Parent #1
Affects function (as reported) Probably affects function
Affects function (by curator) Probably affects function
Classification method ACGS
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.11200225A>C
DNA change (hg38) g.11089549A>C
Published as -
ISCN -
DB-ID LDLR_000356 See all 3 reported entries
Variant remarks predicted no LDLR protein; p.(Met1Leu); Translational initiation site destroyed LDLR would not be produced
Reference PubMed: Tosi 2007
ClinVar ID -
dbSNP ID -
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.1A>C r.(?) p.0? disease causing signal peptide PPII HumDiv benign, 0.167; HumVar benign, 0.354 Not tolerated; SIFT2 Not tolerated 0.175; (Ch, Rh, B, M, Ra, H, X, S) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000060985 DNA SEQ - - LDLR 1 Sarah Leigh