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Variant (rsID / SNP)

rs143878016

RETREG1

rs143878016 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RETREG1. Location: chromosome 5, position 16,481,181. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

RETREG1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
5:16481181
Cytoband
5p15.1
HGVS
NM_001034850.3(RETREG1):c.607G>A (p.Val203Met)
Allele change
Missense_V203M

Associated conditions / phenotypes

Neuropathy, hereditary sensory and autonomic, type 2B

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.