Variant (rsID / SNP)

rs201671098

rs201671098 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NTHL1. Location: chromosome 16, position 2,096,224. Clinical significance in the table: Pathogenic.

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Reference-table entries

NTHL1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 16:2096224
Cytoband: 16p13.3
HGVS: NM_002528.7(NTHL1):c.259C>T (p.Gln87Ter)
Allele change: Nonsense_Q95X

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.