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Variant (rsID / SNP)

rs750740230

RETREG1

rs750740230 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RETREG1. Location: chromosome 5, position 16,617,075. 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
5:16617075
Cytoband
5p15.1
HGVS
NM_001034850.3(RETREG1):c.6G>C (p.Ala2=)
Allele change
Synonymous_A2A

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.