Variant (rsID / SNP)

rs142245618

rs142245618 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LRP2. Location: chromosome 2, position 169,989,127. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

LRP2Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 2:169989127
Cytoband: 2q31.1
HGVS: NM_004525.3(LRP2):c.13685T>C (p.Val4562Ala)
Allele change: Missense_V4562A

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.