Variant (rsID / SNP)

rs138269726

rs138269726 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LRP2. Location: chromosome 2, position 170,068,598. 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: 2:170068598
Cytoband: 2q31.1
HGVS: NM_004525.3(LRP2):c.6160G>A (p.Asp2054Asn)
Allele change: Missense_D2054N

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.