Variant (rsID / SNP)

rs2279253

rs2279253 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NODAL. Location: chromosome 10, position 72,191,952. 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: 10:72191952
Cytoband: 10q22.1
HGVS: NM_018055.5(NODAL):c.*740T>C
Allele change: Silent

Associated conditions / phenotypes

Visceral heterotaxy 5, autosomal|Holoprosencephaly sequence

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.