Variant #0000091378 (NC_000019.9:g.11200203del, LDLR(NM_000527.4):c.-22del)

Individual ID 00060369
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.11200203del
DNA change (hg38) g.11089527del
Published as c.-22delC
ISCN -
DB-ID LDLR_001139
Variant remarks Proband compound Htz with c.762_763inv, p.(Q254_C255delinsHG), inherited from mother & c.-22delC from father. Not found in 50 normals. Creates new initiation site, which could result in an novel peptide of 35aa.
Reference PubMed: Sozen 2005
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     

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DNA change (cDNA)     

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Enzyme activity     
LDLR NM_000527.4 ?/? 1 c.-22del r.(=) p.(=) - 5'UTR - - 10/12 conservation {PMID25248394:Khamis et al European Journal of Human Genetics (2015) 23, 790–795} - not tested



Screenings


AscendingScreening ID     

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Owner     
0000060358 DNA SEQ - - LDLR 1 Sarah Leigh