Variant (rsID / SNP)

rs137852739

rs137852739 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RETREG1. Location: chromosome 5, position 16,477,845. Clinical significance in the table: Pathogenic.

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Reference-table entries

RETREG1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 5:16477845
Cytoband: 5p15.1
HGVS: NM_001034850.3(RETREG1):c.926C>G (p.Ser309Ter)
Allele change: Nonsense_S309X

Associated conditions / phenotypes

Neuropathy, hereditary sensory and autonomic, type 2B|Charcot-Marie-Tooth disease

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.