Variant #0000905941 (NC_000002.11:g.170103996C>T, NM_004525.2:c.2800G>A (LRP2))

Individual ID 00426930
Chromosome 2
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.170103996C>T
DNA change (hg38) g.169247486C>T
Published as LRP2 c.2800G>A, p.(Gly934Ser)
ISCN -
DB-ID LRP2_000313
Variant remarks heterozygous, probably non-causal incidental finding
Reference PubMed: Zhu 2022
ClinVar ID -
dbSNP ID -
Origin Germline/De novo (untested)
Segregation ?
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0 View details
Owner LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anna Tracewska
Date created 2022-12-03 18:53:15 +01:00 (CET)
Date last edited 2024-07-11 16:24:20 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
LRP2 NM_004525.2 ?/. - c.2800G>A r.(?) p.(Gly934Ser)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000428250 DNA SEQ-NG;SEQ saliva panel-based next generation sequencing RDH12 7 LOVD


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