Variant #0000353038 (NC_000011.9:g.46896373C>G, NM_002334.3:c.4207G>C (LRP4))

Individual ID 00152959
Chromosome 11
Allele Paternal (confirmed)
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.46896373C>G
DNA change (hg38) g.46874822C>G
Published as -
ISCN -
DB-ID LRP4_000011
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Rivka Sukenik Halevy
Database submission license No license selected
Created by Rivka Sukenik Halevy
Date created 2018-02-04 17:37:53 +01:00 (CET)
Date last edited 2018-02-09 17:15:24 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
LRP4 NM_002334.3 +?/. 28 c.4207G>C r.(?) p.(Asp1403His)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000153822 DNA SEQ-NG-I - - LRP4 2 Rivka Sukenik Halevy


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