Variant (rsID / SNP)

rs143822500

rs143822500 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LRP2. Location: chromosome 2, position 170,113,674. Clinical significance in the table: Uncertain significance.

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Reference-table entries

LRP2Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 2:170113674
Cytoband: 2q31.1
HGVS: NM_004525.3(LRP2):c.2599A>G (p.Thr867Ala)
Allele change: Missense_T867A

Associated conditions / phenotypes

Donnai-Barrow syndrome

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.