Variant (rsID / SNP)

rs80356674

rs80356674 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NTRK1. Location: chromosome 1, position 156,843,392. Clinical significance in the table: Pathogenic.

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Reference-table entries

NTRK1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 1:156843392
Cytoband: 1q23.1
HGVS: NM_002529.4(NTRK1):c.851-33T>A
Allele change: Silent

Associated conditions / phenotypes

Hereditary insensitivity to pain with anhidrosis|Inborn genetic diseases

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.