Variant (rsID / SNP)

rs113818864

rs113818864 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NKX2-5. Location: chromosome 5, position 172,661,963. Clinical significance in the table: Likely benign.

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Reference-table entries

NKX2-5Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 5:172661963
Cytoband: 5q35.1
HGVS: NM_004387.4(NKX2-5):c.124G>C (p.Ala42Pro)
Allele change: Missense_A42P

Associated conditions / phenotypes

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.