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Variant (rsID / SNP)

rs118009068

LRP4

rs118009068 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LRP4. Location: chromosome 11, position 46,917,501. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

LRP4Benign
Clinical significance (as recorded)
Benign/Likely benign
Variant type
single nucleotide variant
Chromosome / position
11:46917501
Cytoband
11p11.2
HGVS
NM_002334.4(LRP4):c.1117C>T (p.Arg373Trp)
Allele change
Missense_R373W

Associated conditions / phenotypes

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

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.