Variant (rsID / SNP)

rs587776601

rs587776601 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLURP1. Location: chromosome 8, position 143,823,317. Clinical significance in the table: Pathogenic.

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Reference-table entries

SLURP1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: Deletion
Chromosome / position: 8:143823317
Cytoband: 8q24.3
HGVS: NM_020427.3(SLURP1):c.82del (p.Cys28fs)

Associated conditions / phenotypes

Acroerythrokeratoderma

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.