Variant (rsID / SNP)

rs186593898

rs186593898 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GNB4. Location: chromosome 3, position 179,123,046. Clinical significance in the table: Uncertain significance.

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Reference-table entries

GNB4Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 3:179123046
Cytoband: 3q26.33
HGVS: NM_021629.4(GNB4):c.848G>C (p.Arg283Pro)
Allele change: Missense_R283H

Associated conditions / phenotypes

Charcot-Marie-Tooth disease dominant intermediate F

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.