Variant #0000093841 (NC_000019.9:g.[11216231_11216236dup;11216239_11216243del], LDLR(NM_000527.4):c.[649_654dup;657_661del])

Individual ID 00062832
Chromosome 19
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Classification method ACGS
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.[11216231_11216236dup;11216239_11216243del]
DNA change (hg38) -
Published as [D196_G197dup;G198fsX7]
ISCN -
DB-ID LDLR_000370
Variant remarks predicted trucated protein; 6bp duplication (GATGGT) & 5bp deletion (CCCCG)
Reference PubMed: Giesel 1995
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
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 +/+ 4 c.[649_654dup;657_661del] r.(?) p.([Asp217_Gly218dup; Gly219fs*7]) - LDL-receptor class A5 - - - - -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000062821 DNA SEQ - - LDLR 1 Sarah Leigh