Variant (rsID / SNP)

rs34564141

rs34564141 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LRP2. Location: chromosome 2, position 169,985,338. Clinical significance in the table: Benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

LRP2Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 2:169985338
Cytoband: 2q31.1
HGVS: NM_004525.3(LRP2):c.13803G>A (p.Met4601Ile)
Allele change: Missense_M4601I

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.