Variant (rsID / SNP)

rs375086983

rs375086983 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NKX2-5. Location: chromosome 5, position 172,659,699. Clinical significance in the table: Uncertain significance.

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Reference-table entries

NKX2-5Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 5:172659699
Cytoband: 5q35.1
HGVS: NM_004387.4(NKX2-5):c.848C>A (p.Pro283Gln)
Allele change: Silent

Associated conditions / phenotypes

Ventricular septal defect 3|Atrial septal defect 7

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.