Variant #0000600853 (NC_000019.9:g.11198407_11201382delinsTTC, LDLR(NM_000527.4):c.-1818_67+1091delinsTTC)

Individual ID 00267046
Chromosome 19
Allele Paternal (confirmed)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic (dominant)
DNA change (genomic) (Relative to hg19 / GRCh37) g.11198407_11201382delinsTTC
DNA change (hg38) g.11087731_11090706delinsTTC
Published as 11198406_11201384del, insTTCG
ISCN -
DB-ID LDLR_002172
Variant remarks 2977 del exon 1
Reference PubMed: Wong 2019, Journal: Wong 2019
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Karen HY Wong
Database submission license No license selected
Created by Karen HY Wong
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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_1i c.-1818_67+1091delinsTTC r.0? p.0? - - - - - - -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000268175 DNA SEQ-NG - - LDLR 8 Karen HY Wong