Variant (rsID / SNP)

rs111426027

rs111426027 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LRP4. Location: chromosome 11, position 46,889,607. 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: 11:46889607
Cytoband: 11p11.2
HGVS: NM_002334.4(LRP4):c.5010G>A (p.Val1670=)
Allele change: Silent

Associated conditions / phenotypes

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