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Variant (rsID / SNP)

rs148104494

NTHL1

rs148104494 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NTHL1. Location: chromosome 16, position 2,096,209. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

NTHL1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
16:2096209
Cytoband
16p13.3
HGVS
NM_002528.7(NTHL1):c.274C>T (p.Arg92Cys)
Allele change
Missense_R100C

Associated conditions / phenotypes

Familial adenomatous polyposis 3|Hereditary cancer-predisposing syndrome

Public references

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