Variant (rsID / SNP)

rs77686710

rs77686710 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LRP2. Location: chromosome 2, position 170,022,537. Clinical significance in the table: Likely benign.

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Reference-table entries

LRP2Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 2:170022537
Cytoband: 2q31.1
HGVS: NM_004525.3(LRP2):c.11663G>A (p.Arg3888His)
Allele change: Missense_R3888H

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.