Variant #0000913583 (NC_000011.9:g.46897180G>A, NM_002334.3:c.3752C>T (LRP4))

Chromosome 11
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.46897180G>A
DNA change (hg38) -
Published as LRP4(NM_002334.3):c.3752C>T (p.(Pro1251Leu)), LRP4(NM_002334.4):c.3752C>T (p.P1251L)
ISCN -
DB-ID LRP4_000062 See all 2 reported entries
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.0001 View details
Owner VKGL-NL_Leiden
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Leiden
Date created 2023-01-11 15:44:22 +01:00 (CET)
Date last edited 2024-04-19 20:27:30 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
LRP4 NM_002334.3 ?/. - c.3752C>T r.(?) p.(Pro1251Leu)


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