Variant (rsID / SNP)

rs368134354

rs368134354 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SPINK5. Location: chromosome 5, position 147,484,503. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

SPINK5Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 5:147484503
Cytoband: 5q32
HGVS: NM_006846.4(SPINK5):c.1431-12G>A
Allele change: Silent

Associated conditions / phenotypes

Increased circulating IgE level|Erythroderma|Netherton 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.