Variant (rsID / SNP)

rs2303070

rs2303070 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SPINK5. Location: chromosome 5, position 147,499,891. Clinical significance in the table: Benign.

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Reference-table entries

SPINK5Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 5:147499891
Cytoband: 5q32
HGVS: NM_006846.4(SPINK5):c.2475G>T (p.Glu825Asp)
Allele change: Missense_E825D

Associated conditions / phenotypes

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.