Variant (rsID / SNP)

rs6339

rs6339 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NTRK1. Location: chromosome 1, position 156,848,946. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

NTRK1Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 1:156848946
Cytoband: 1q23.1
HGVS: NM_002529.4(NTRK1):c.1838G>T (p.Gly613Val)
Allele change: Missense_G577V

Associated conditions / phenotypes

Familial medullary thyroid carcinoma|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.