Variant (rsID / SNP)

rs121909126

rs121909126 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LEFTY2. Location: chromosome 1, position 226,125,217. Clinical significance in the table: Uncertain significance.

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Reference-table entries

LEFTY2Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 1:226125217
Cytoband: 1q42.12
HGVS: NM_003240.5(LEFTY2):c.1025G>A (p.Ser342Asn)
Allele change: Missense_S342N

Associated conditions / phenotypes

Left-right axis malformations

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.