Variant (rsID / SNP)

rs80356677

rs80356677 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NTRK1. Location: chromosome 1, position 156,849,128. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

NTRK1Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 1:156849128
Cytoband: 1q23.1
HGVS: NM_002529.4(NTRK1):c.2020G>T (p.Asp674Tyr)
Allele change: Missense_D638Y

Associated conditions / phenotypes

Hereditary insensitivity to pain with anhidrosis

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.