Variant (rsID / SNP)

rs4696

rs4696 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HINT1. Location: chromosome 5, position 130,500,842. Clinical significance in the table: Benign.

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Reference-table entries

HINT1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 5:130500842
Cytoband: 5q23.3
HGVS: NM_005340.7(HINT1):c.57T>C (p.Phe19=)
Allele change: Silent

Associated conditions / phenotypes

Autosomal recessive axonal neuropathy with neuromyotonia

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.