Variant #0000093256 (NC_000019.9:g.11227666G>A, LDLR(NM_000527.4):c.1837G>A)

Individual ID 00062247
Chromosome 19
Allele Parent #1
Affects function (as reported) Probably does not affect function
Affects function (by curator) 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 -
Reference PubMed: Whittall 2010
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     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

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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, Ck, Z) - -



Screenings


AscendingScreening ID     

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Genes screened     

Variants found     

Owner     
0000062236 DNA SEQ - - LDLR 1 Sarah Leigh