Variant (rsID / SNP)

rs45479896

rs45479896 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RAB23. Location: chromosome 6, position 57,061,345. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

RAB23Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 6:57061345
Cytoband: 6p12.1
HGVS: NM_016277.5(RAB23):c.301T>G (p.Ser101Ala)
Allele change: Missense_S101A

Associated conditions / phenotypes

Carpenter syndrome|RAB23-related Carpenter syndrome

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.