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Variant (rsID / SNP)

rs137852693

NKX2-1

rs137852693 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NKX2-1. Location: chromosome 14, position 36,987,076. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

NKX2-1Pathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
14:36987076
Cytoband
14q13.3
HGVS
NM_001079668.3(NKX2-1):c.613G>T (p.Glu205Ter)
Allele change
Silent

Associated conditions / phenotypes

Brain-lung-thyroid syndrome|Inborn genetic diseases|Benign hereditary chorea

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.