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Variant (rsID / SNP)

rs137994522

NTRK1

rs137994522 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NTRK1. Location: chromosome 1, position 156,843,514. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

NTRK1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
1:156843514
Cytoband
1q23.1
HGVS
NM_002529.4(NTRK1):c.940C>T (p.Arg314Cys)
Allele change
Missense_R284C

Associated conditions / phenotypes

Familial medullary thyroid carcinoma|Hereditary insensitivity to pain with anhidrosis

Public references

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