Variant (rsID / SNP)

rs140806590

rs140806590 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LMBR1. Location: chromosome 7, position 156,521,410. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

LMBR1Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 7:156521410
Cytoband: 7q36.3
HGVS: NM_022458.4(LMBR1):c.843G>A (p.Arg281=)
Allele change: Silent

Associated conditions / phenotypes

Polydactyly of a triphalangeal thumb

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.