Variant #0000091345 (NC_000019.9:g.11200079C>A, LDLR(NM_000527.4):c.-146C>A)

Individual ID 00060336
Chromosome 19
Allele Parent #1
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
Classification method ACGS
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.11200079C>A
DNA change (hg38) g.11089403C>A
Published as -
ISCN -
DB-ID LDLR_001263
Variant remarks Hobb's numbering -53C>A
Reference PubMed: Day 1997
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency not in ExAC, June 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
Options




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.-146C>A r.(=) p.(=) - SREBP2 binding site - - 13/13 conservation {PMID25248394:Khamis et al European Journal of Human Genetics (2015) 23, 790–795} - Not tested



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000060325 DNA SEQ - - LDLR 1 Sarah Leigh