Variant #0000093255 (NC_000019.9:g.11227666G>A, LDLR(NM_000527.4):c.1837G>A)

Individual ID 00062246
Chromosome 19
Allele Parent #1
Affects function (as reported) Probably does not affect function
Affects function (by curator) Probably does not affect function
Classification method ACGS
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.11227666G>A
DNA change (hg38) g.11116990G>A
Published as V592I
ISCN -
DB-ID LDLR_000250 See all 4 reported entries
Variant remarks 12 carriers known in NL. Conservative amino acid substitution (both non-polar).
Reference PubMed: Fouchier 2005
ClinVar ID -
dbSNP ID rs148181903
Origin Germline
Segregation -
Frequency 0.00001648 ExAC, May 2015
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 2.0E-5 View details
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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Enzyme activity     
LDLR NM_000527.4 -?/-? 12 c.1837G>A r.(?) p.(Val613Ile) disease causing LDL-receptor class B5 PPII HumDiv benign, 0; HumVar benign, 0.003 Tolerated; SIFT2 Tolerated 0.791; (Ch, Rh, Ck,Z) - -



Screenings


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Owner     
0000062235 DNA SEQ - - LDLR 1 Sarah Leigh