Variant (rsID / SNP)

rs80338747

rs80338747 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LRP2. Location: chromosome 2, position 170,062,140. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

LRP2Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 2:170062140
Cytoband: 2q31.1
HGVS: NM_004525.3(LRP2):c.7564T>C (p.Tyr2522His)
Allele change: Missense_Y2522H

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.