Variant #0000091382 (NC_000019.9:g.11200293T>A, LDLR(NM_000527.4):c.67+2T>A)

Individual ID 00060373
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.11200293T>A
DNA change (hg38) g.11089617T>A
Published as -
ISCN -
DB-ID LDLR_000877
Variant remarks -
Reference PubMed: Amsellem 2002
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
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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 +?/+? 1i c.67+2T>A r.spl p.? - Intron 1 - - - - -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000060362 DNA SEQ - - LDLR 1 Sarah Leigh