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Variant (rsID / SNP)

rs104894497

RAB27A

rs104894497 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RAB27A. Location: chromosome 15, position 55,520,891. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

RAB27AConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
15:55520891
Cytoband
15q21.3
HGVS
NM_183235.3(RAB27A):c.259G>C (p.Ala87Pro)
Allele change
Missense_A87P

Associated conditions / phenotypes

Griscelli syndrome type 2

Public references

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