Variant (rsID / SNP)

rs149782619

rs149782619 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HINT1. Location: chromosome 5, position 130,500,789. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

HINT1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 5:130500789
Cytoband: 5q23.3
HGVS: NM_005340.7(HINT1):c.110G>C (p.Arg37Pro)
Allele change: Silent

Associated conditions / phenotypes

Autosomal recessive axonal neuropathy with neuromyotonia|Peripheral neuropathy

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.