Variant (rsID / SNP)

rs1904589

rs1904589 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NODAL. Location: chromosome 10, position 72,195,439. Clinical significance in the table: Benign.

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Reference-table entries

NODALBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 10:72195439
Cytoband: 10q22.1
HGVS: NM_018055.5(NODAL):c.494A>G (p.His165Arg)
Allele change: Missense_H32R

Associated conditions / phenotypes

Holoprosencephaly sequence|Visceral heterotaxy 5, autosomal

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.