Variant (rsID / SNP)

rs990626

rs990626 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LRP2. Location: chromosome 2, position 169,997,051. Clinical significance in the table: Benign.

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Reference-table entries

LRP2Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 2:169997051
Cytoband: 2q31.1
HGVS: NM_004525.3(LRP2):c.13113C>T (p.Ile4371=)
Allele change: Synonymous_I4371I

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.