Variant (rsID / SNP)

rs150253578

rs150253578 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LRP4. Location: chromosome 11, position 46,911,915. Clinical significance in the table: Benign.

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Reference-table entries

LRP4Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 11:46911915
Cytoband: 11p11.2
HGVS: NM_002334.4(LRP4):c.1828C>T (p.Arg610Cys)
Allele change: Missense_R610C

Associated conditions / phenotypes

Cenani-Lenz syndactyly syndrome|Congenital myasthenic syndrome 17|Sclerosteosis 2

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.