Variant (rsID / SNP)

rs143413559

rs143413559 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LRP2. Location: chromosome 2, position 170,090,014. 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: 2:170090014
Cytoband: 2q31.1
HGVS: NM_004525.3(LRP2):c.5005A>G (p.Asn1669Asp)
Allele change: Missense_N1669D

Associated conditions / phenotypes

Donnai-Barrow syndrome|Inborn genetic diseases|Intellectual disability|Hearing loss and Retinal dystrophy

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.