Variant #0000353035 (NC_000011.9:g.46911492T>A, NC_000011.9(NM_002334.3):c.(2092+3A>T) (LRP4))

Individual ID 00152956
Chromosome 11
Allele Both (homozygous)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.46911492T>A
DNA change (hg38) g.46889941T>A
Published as -
ISCN -
DB-ID LRP4_000000 See all 4 reported entries
Variant remarks few percent normal mRNA
Reference PubMed: Simon-Chazottes 2006
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2010-06-11 14:44:05 +02:00 (CEST)
Date last edited N/A
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
LRP4 NM_002334.3 +/. 15i c.(2092+3A>T) r.[1916_2092del, =] p.[Leu640_Gly698del, =]



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000153819 DNA;RNA RT-PCR;SEQ - - LRP4 1 Johan den Dunnen


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