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 International |
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) |

Variant on transcripts
Screenings
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