Variant (rsID / SNP)

rs28936672

rs28936672 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NKX2-1. Location: chromosome 14, position 36,986,976. Clinical significance in the table: Pathogenic.

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Reference-table entries

NKX2-1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 14:36986976
Cytoband: 14q13.3
HGVS: NM_001079668.3(NKX2-1):c.713G>T (p.Trp238Leu)
Allele change: Silent

Associated conditions / phenotypes

Benign hereditary chorea

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.