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Variant (rsID / SNP)

rs121909283

NODAL

rs121909283 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NODAL. Location: chromosome 10, position 72,195,155. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

NODALConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
10:72195155
Cytoband
10q22.1
HGVS
NM_018055.5(NODAL):c.778G>A (p.Gly260Arg)
Allele change
Missense_G127R

Associated conditions / phenotypes

Visceral heterotaxy 5, autosomal|Inborn genetic diseases|Wolff-Parkinson-White pattern|Visceral heterotaxy

Public references

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