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Variant (rsID / SNP)

rs150819707

NODAL

rs150819707 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NODAL. Location: chromosome 10, position 72,192,832. 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
10:72192832
Cytoband
10q22.1
HGVS
NM_018055.5(NODAL):c.904C>T (p.Arg302Cys)
Allele change
Missense_R169C

Associated conditions / phenotypes

Visceral heterotaxy 5, autosomal|Holoprosencephaly sequence

Public references

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