Variant (rsID / SNP)

rs121909490

rs121909490 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LMX1B. Location: chromosome 9, position 129,455,552. Clinical significance in the table: Pathogenic.

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Reference-table entries

LMX1BPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 9:129455552
Cytoband: 9q33.3
HGVS: NM_001174147.2(LMX1B):c.691C>T (p.Arg231Ter)
Allele change: Nonsense_R231X

Associated conditions / phenotypes

Nail-patella 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.